ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1392T>C (p.Pro464=)

gnomAD frequency: 0.00005  dbSNP: rs63750201
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162675 SCV000213122 likely benign Hereditary cancer-predisposing syndrome 2014-09-18 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 RCV000524236 SCV000253133 likely benign Hereditary nonpolyposis colorectal neoplasms 2025-01-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162675 SCV000689805 likely benign Hereditary cancer-predisposing syndrome 2016-02-24 criteria provided, single submitter clinical testing
Mendelics RCV000987176 SCV001136412 benign Colorectal cancer, hereditary nonpolyposis, type 2 2023-08-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192574 SCV001360801 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284162 SCV001469790 likely benign not provided 2021-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001284162 SCV001830354 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000162675 SCV002528646 likely benign Hereditary cancer-predisposing syndrome 2020-08-26 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV003997109 SCV004841000 likely benign Lynch syndrome 2023-12-01 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000987176 SCV005897154 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.
PreventionGenetics, part of Exact Sciences RCV003915038 SCV004730254 likely benign MLH1-related disorder 2019-04-17 no assertion criteria provided 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).

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