ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1230C>T (p.Ala410=)

gnomAD frequency: 0.00001  dbSNP: rs764377126
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163451 SCV000213998 likely benign Hereditary cancer-predisposing syndrome 2016-11-22 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 RCV000441943 SCV000518183 likely benign not specified 2017-05-24 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000471921 SCV000555961 likely benign Hereditary nonpolyposis colorectal neoplasms 2025-01-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163451 SCV000911478 likely benign Hereditary cancer-predisposing syndrome 2017-11-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995256 SCV004840980 likely benign Lynch syndrome 2024-02-05 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005246691 SCV005896506 benign Colorectal cancer, hereditary nonpolyposis, type 2 2024-11-22 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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