ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.24T>A (p.Ile8=)

gnomAD frequency: 0.00001  dbSNP: rs748406142
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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 RCV000163705 SCV000214279 likely benign Hereditary cancer-predisposing syndrome 2015-06-30 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 RCV001086763 SCV000259912 benign Hereditary nonpolyposis colorectal neoplasms 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000759085 SCV000520531 likely benign not provided 2019-07-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163705 SCV000684808 likely benign Hereditary cancer-predisposing syndrome 2017-03-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759085 SCV000888181 benign not provided 2018-01-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000422308 SCV001361968 likely benign not specified 2019-10-10 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163705 SCV002528731 likely benign Hereditary cancer-predisposing syndrome 2021-10-19 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV003995274 SCV004835211 likely benign Lynch syndrome 2023-11-20 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005246695 SCV005897186 benign Colorectal cancer, hereditary nonpolyposis, type 2 2024-11-15 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 RCV003907510 SCV004724591 likely benign MLH1-related disorder 2019-08-06 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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