Submissions for variant NM_002439.5(MSH3):c.1522A>G (p.Lys508Glu)

gnomAD frequency: 0.00112  dbSNP: rs146768828

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000963325	SCV001110474	likely benign	not provided	2025-02-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001011998	SCV001172396	likely benign	Hereditary cancer-predisposing syndrome	2018-11-16	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	RCV000963325	SCV002558398	uncertain significance	not provided	2022-01-27	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
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000963325	SCV004221042	likely benign	not provided	2023-05-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003916119	SCV004736825	likely benign	MSH3-related disorder	2020-12-18	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).