ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.956A>G (p.Asp319Gly)

dbSNP: rs786204185
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000505914 SCV000604265 uncertain significance not provided 2017-05-24 criteria provided, single submitter clinical testing The p.Asp319Gly variant has not been reported in the medical literature, is not listed in gene-specific variant databases, nor has it been previously identified in our laboratory. It is listed in the Genome Aggregation Database (gnomAD) browser with an overall frequency of 0.0004% (identified in 1 out of 246,188 chromosomes). The aspartic acid at codon 319 is moderately conserved considering 14 species (Alamut software v2.9), and computational analyses return mixed results regarding the effect of this variant on MSH2 protein structure/function (SIFT: tolerated, PolyPhen2: benign, and Mutation Taster: disease causing). Thus, based on the available information, the clinical significance of the p.Asp319Gly variant cannot be determined with certainty.
Color Diagnostics, LLC DBA Color Health RCV001190706 SCV001358281 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001190706 SCV002695051 likely benign Hereditary cancer-predisposing syndrome 2022-10-17 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002524919 SCV003213282 benign Hereditary nonpolyposis colorectal neoplasms 2023-07-08 criteria provided, single submitter clinical testing

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