Submissions for variant NM_002439.5(MSH3):c.1313C>T (p.Ala438Val)

gnomAD frequency: 0.00128  dbSNP: rs35121792

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000974203	SCV001122018	likely benign	not provided	2025-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001010918	SCV001171183	likely benign	Hereditary cancer-predisposing syndrome	2021-05-13	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV000974203	SCV002525246	uncertain significance	not provided	2025-01-02	criteria provided, single submitter	clinical testing	In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29641532)
Sema4, Sema4	RCV001010918	SCV002535940	uncertain significance	Hereditary cancer-predisposing syndrome	2021-11-07	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000974203	SCV004221032	likely benign	not provided	2023-01-03	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005392604	SCV006056510	uncertain significance	Endometrial carcinoma; Familial adenomatous polyposis 4	2024-08-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003972960	SCV004792914	likely benign	MSH3-related disorder	2021-02-04	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).