ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.216A>G (p.Ala72=)

gnomAD frequency: 0.00007  dbSNP: rs746298214
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000584170 SCV000690051 likely benign Hereditary cancer-predisposing syndrome 2017-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001498076 SCV001702817 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150288 SCV003837612 likely benign Breast and/or ovarian cancer 2021-07-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584170 SCV005033549 likely benign Hereditary cancer-predisposing syndrome 2023-10-16 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.

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