ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.1939C>T (p.Arg647Cys)

gnomAD frequency: 0.00171  dbSNP: rs28756987
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001121873 SCV000285762 benign Colorectal cancer, hereditary nonpolyposis, type 7 2024-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001121873 SCV001280528 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 7 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Mayo Clinic Laboratories, Mayo Clinic RCV002261016 SCV002541225 uncertain significance not provided 2022-01-07 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002267980 SCV002551441 uncertain significance not specified 2024-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002267980 SCV002723831 likely benign not specified 2020-06-25 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.

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