ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.2190T>C (p.Pro730=)

gnomAD frequency: 0.00001  dbSNP: rs1057521673
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438805 SCV000523985 likely benign not specified 2017-07-26 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.
Invitae RCV001088705 SCV000625132 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574993 SCV000662041 likely benign Hereditary cancer-predisposing syndrome 2016-03-02 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759082 SCV000888177 likely benign not provided 2020-01-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000574993 SCV001352062 likely benign Hereditary cancer-predisposing syndrome 2018-11-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000438805 SCV001623138 likely benign not specified 2021-05-08 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000438805 SCV002760295 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000398 SCV004843294 likely benign Lynch syndrome 2023-05-23 criteria provided, single submitter clinical testing

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