ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.911A>T (p.Asp304Val)

dbSNP: rs63750993
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075932 SCV000106949 likely pathogenic Lynch syndrome 2019-06-21 reviewed by expert panel curation Multifactorial likelihood analysis posterior probability >0.99
Myriad Genetics, Inc. RCV003452789 SCV004189273 likely pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-19 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 17510385, 30504929, 31784484]. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 10882759].
Constitutional Genetics Lab, Leon Berard Cancer Center RCV001250011 SCV001423912 likely pathogenic Lynch-like syndrome 2019-07-01 no assertion criteria provided clinical testing

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