ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.636C>T (p.Thr212=)

gnomAD frequency: 0.00001  dbSNP: rs138735345
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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 RCV000163756 SCV000214333 likely benign Hereditary cancer-predisposing syndrome 2014-10-30 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 RCV001083672 SCV000284070 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-11-12 criteria provided, single submitter clinical testing
Counsyl RCV000410585 SCV000487838 likely benign Colorectal cancer, hereditary nonpolyposis, type 2 2015-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000233182 SCV000518449 likely benign not provided 2020-11-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163756 SCV000684854 likely benign Hereditary cancer-predisposing syndrome 2016-10-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000233182 SCV001134319 likely benign not provided 2019-07-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000233182 SCV001248016 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing MLH1: BP4, BP7
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465545 SCV002760278 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000410585 SCV004018113 benign Colorectal cancer, hereditary nonpolyposis, type 2 2023-03-13 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.
All of Us Research Program, National Institutes of Health RCV003995279 SCV004840883 likely benign Lynch syndrome 2023-05-04 criteria provided, single submitter clinical testing

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