ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.723A>G (p.Lys241=)

dbSNP: rs1057521605
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420015 SCV000523768 likely benign not specified 2016-01-26 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.
Color Diagnostics, LLC DBA Color Health RCV001183953 SCV001349810 likely benign Hereditary cancer-predisposing syndrome 2019-01-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001494970 SCV001699637 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001183953 SCV002670123 likely benign Hereditary cancer-predisposing syndrome 2021-09-26 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.
All of Us Research Program, National Institutes of Health RCV004000393 SCV004840900 likely benign Lynch syndrome 2023-04-27 criteria provided, single submitter clinical testing

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