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

gnomAD frequency: 0.00128  dbSNP: rs35121792

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000974203	SCV001122018	likely benign	not provided	2024-02-01	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	2023-06-12	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
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
PreventionGenetics, part of Exact Sciences	RCV003972960	SCV004792914	likely benign	MSH3-related disorder	2021-02-04	criteria provided, single submitter	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).