ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1452T>C (p.Asp484=)

gnomAD frequency: 0.00001  dbSNP: rs587778916
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163470 SCV000214023 likely benign Hereditary cancer-predisposing syndrome 2014-11-19 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000524239 SCV000555980 likely benign Hereditary nonpolyposis colorectal neoplasms 2025-01-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163470 SCV000689814 likely benign Hereditary cancer-predisposing syndrome 2017-10-20 criteria provided, single submitter clinical testing
GeneDx RCV001689615 SCV001907836 benign not provided 2015-04-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265596 SCV002547919 likely benign not specified 2022-05-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001689615 SCV004149365 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing MLH1: BP4, BP7
All of Us Research Program, National Institutes of Health RCV003997112 SCV004841012 likely benign Lynch syndrome 2024-05-14 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005246616 SCV005897353 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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