ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1863A>T (p.Arg621=)

gnomAD frequency: 0.00003  dbSNP: rs786203119
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166283 SCV000217065 likely benign Hereditary cancer-predisposing syndrome 2014-10-21 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 RCV000679298 SCV000515997 likely benign not provided 2019-08-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23047549)
Invitae RCV001083110 SCV000625324 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000166283 SCV000684989 likely benign Hereditary cancer-predisposing syndrome 2016-10-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679298 SCV000806015 likely benign not provided 2018-01-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679298 SCV004220963 uncertain significance not provided 2023-07-14 criteria provided, single submitter clinical testing In the published literature, this variant has been reported in at least one individual with ovarian cancer (PMID: 23047549 (2012)). The frequency of this variant in the general population, 0.00014 (5/34592 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on MSH2 mRNA splicing yielded predictions that this variant may result in the gain of a cryptic splice site without affecting the natural splice sites . Based on the available information, we are unable to determine the clinical significance of this variant.
All of Us Research Program, National Institutes of Health RCV003995496 SCV004829796 likely benign Lynch syndrome 2024-02-05 criteria provided, single submitter clinical testing

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