ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.512G>A (p.Arg171Lys)

gnomAD frequency: 0.00006  dbSNP: rs63750902
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000627693 SCV000548143 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570883 SCV000662292 benign Hereditary cancer-predisposing syndrome 2022-04-11 criteria provided, single submitter clinical testing This alteration is classified as 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.
Color Diagnostics, LLC DBA Color Health RCV000570883 SCV000911207 likely benign Hereditary cancer-predisposing syndrome 2016-03-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001137124 SCV001297032 uncertain significance Lynch syndrome 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV003231115 SCV003929562 uncertain significance not provided 2023-06-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Published functional studies suggest a neutral effect: restored mismatch repair (MMR) function in a MSH2 knockout cell line (Jia et al., 2020); Observed in individuals with colorectal cancer (Rajkumar et al., 2004); This variant is associated with the following publications: (PMID: 18383312, 33281875, 26333163, 31569399, 18822302, 21120944, 33357406, 33471991, 15345113)
All of Us Research Program, National Institutes of Health RCV003997176 SCV004828377 likely benign Lynch syndrome 2024-05-14 criteria provided, single submitter clinical testing

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