ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1872C>T (p.Asp624=)

gnomAD frequency: 0.00002  dbSNP: rs145535636
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430377 SCV000532697 likely benign not specified 2016-10-10 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.
Ambry Genetics RCV000572236 SCV000669536 likely benign Hereditary cancer-predisposing syndrome 2016-06-17 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.
Color Diagnostics, LLC DBA Color Health RCV000572236 SCV001339533 likely benign Hereditary cancer-predisposing syndrome 2019-03-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000476999 SCV001473389 likely benign not provided 2019-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001498345 SCV001703095 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-11-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000572236 SCV002528690 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-09 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV004000532 SCV004843226 likely benign Lynch syndrome 2023-12-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000430377 SCV005202656 likely benign not specified 2024-07-11 criteria provided, single submitter clinical testing

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