ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1766C>A (p.Ala589Asp)

dbSNP: rs63750016
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075360 SCV000106354 likely pathogenic Lynch syndrome 2019-06-21 reviewed by expert panel curation Abrogated function (reduced expression in 2 independent assays) & 2 MSI-H tumours
Myriad Genetics, Inc. RCV003451065 SCV004185872 likely pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-21 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 20020535, 31784484]. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 16083711, 21404117]. This variant is expected to disrupt protein structure [Myriad internal data].

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