ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.939dup (p.Val314fs)

dbSNP: rs63751259
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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) RCV000075942 SCV000106958 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV000629737 SCV000750693 pathogenic Hereditary nonpolyposis colorectal neoplasms 2018-01-29 criteria provided, single submitter clinical testing Loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). For these reasons, this variant has been classified as Pathogenic. This variant has been reported in an individual affected with colon cancer (PMID: 11606497). This variant is also known as 938Ains. in the literature. ClinVar contains an entry for this variant (Variation ID: 90449). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val314Serfs*48) in the MLH1 gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV003452790 SCV004188604 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-18 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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