ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2106G>A (p.Val702=)

gnomAD frequency: 0.00001  dbSNP: rs786201108
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162679 SCV000213131 likely benign Hereditary cancer-predisposing syndrome 2017-04-26 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.
Invitae RCV001078875 SCV000559181 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000831558 SCV000973310 likely benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina RCV001140257 SCV001300494 uncertain significance Lynch syndrome 1 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Color Diagnostics, LLC DBA Color Health RCV000162679 SCV001736386 likely benign Hereditary cancer-predisposing syndrome 2020-10-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995211 SCV004827807 likely benign Lynch syndrome 2023-05-04 criteria provided, single submitter clinical testing

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