ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.351G>A (p.Thr117=)

gnomAD frequency: 0.00001  dbSNP: rs61751643
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163354 SCV000213888 likely benign Hereditary cancer-predisposing syndrome 2014-07-11 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.
Invitae RCV001086241 SCV000253139 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000759086 SCV000517841 likely benign not provided 2021-01-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163354 SCV000684821 likely benign Hereditary cancer-predisposing syndrome 2016-12-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759086 SCV000888184 likely benign not provided 2020-09-22 criteria provided, single submitter clinical testing
Mendelics RCV000987150 SCV001136373 likely benign Colorectal cancer, hereditary nonpolyposis, type 2 2019-05-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163354 SCV002528740 likely benign Hereditary cancer-predisposing syndrome 2021-07-21 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002271432 SCV002556045 likely benign not specified 2022-06-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003982912 SCV004797265 likely benign MLH1-related disorder 2022-05-26 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV003995249 SCV004835272 likely benign Lynch syndrome 2023-12-18 criteria provided, single submitter clinical testing

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