Evidence map›Paper›PMID 42210921›Full record

ArticleFrontiers in medicine2026

Correcting PVS1 overestimation: clinical insights into rescue transcripts and variant reclassification in 4 prenatal cases.

Xiangyou Leng, Jin Wang, Danying Yi, Xiaoyan Zhu, Shengfang Qin, Xinying Wang, Rui Tang, Xueyan Wang

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Article in Frontiers in medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Xiangyou LengDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Women's and Children's Hospital, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China.
Jin WangDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Women's and Children's Hospital, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China.
Danying YiDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Women's and Children's Hospital, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China.
Xiaoyan ZhuDepartment of Clinical Laboratory, Sichuan Provincial Women's and Children's Hospital, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China.
Shengfang QinDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Women's and Children's Hospital, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China.
Xinying WangDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Women's and Children's Hospital, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China.
Rui TangDepartment of Medical Genetics, West China Medical School, Sichuan University, Chengdu, China.
Xueyan WangDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Women's and Children's Hospital, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: As NGS has become more widely used in the diagnosis of rare diseases, an increasing number of variants of uncertain significance (VUS) have been detected, and their interpretation remains challenging. In particular,when a LOF variant in a non-conserved exon of the MANE transcript is detected by ES, yet the individual carrying this variant exhibits no clinical manifestations. In this context, the ACMG Splicing Subgroup introduced the term 'rescue transcripts' to guide the interpretation of LOF variants located within non-conserved exons. Methods: In this study, the properties of four different variants were characterised using in silico predictions, protein structural analysis, population frequency data, and clinical observations. Results: Three variants ( Conclusion: The presented case studies provide actionable recommendations for identifying rescue transcripts and enhance the understanding of the correct application of PVS1 codes.

Indexed as

ACMGAlphaFold3ESPVS1rescue transcript

Identifiers

PMID42210921
PMCPMC13212255

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