ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2053A>G (p.Ile685Val)

gnomAD frequency: 0.00001  dbSNP: rs1060499876
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455798 SCV000539692 uncertain significance not specified 2016-10-13 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Not reported in affected patients and not in ExAC but Val is seen in 14 species (including >10 mammals).
Invitae RCV000699064 SCV000827759 benign Hereditary nonpolyposis colorectal neoplasms 2022-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014241 SCV001174927 likely benign Hereditary cancer-predisposing syndrome 2023-09-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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