ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1003C>T (p.Leu335=)

dbSNP: rs267607812
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075070 SCV000106059 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Synonymous substitution with no splicing aberration, tested using NMD inhibitors
Color Diagnostics, LLC DBA Color Health RCV000580632 SCV000684705 likely benign Hereditary cancer-predisposing syndrome 2017-05-09 criteria provided, single submitter clinical testing
Invitae RCV000972046 SCV001119736 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000580632 SCV001169755 likely benign Hereditary cancer-predisposing syndrome 2015-08-24 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.
Sema4, Sema4 RCV000580632 SCV002536423 likely benign Hereditary cancer-predisposing syndrome 2021-09-20 criteria provided, single submitter curation

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