ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1446G>A (p.Val482=)

gnomAD frequency: 0.00001  dbSNP: rs1417379962
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530750 SCV000625067 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395279 SCV002697920 likely benign Hereditary cancer-predisposing syndrome 2020-07-07 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.
All of Us Research Program, National Institutes of Health RCV004003711 SCV004841010 likely benign Lynch syndrome 2023-09-17 criteria provided, single submitter clinical testing

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