ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1528C>T (p.Gln510Ter) (rs63749923)

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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) RCV000075235 SCV000106228 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV000699744 SCV000828469 pathogenic Hereditary nonpolyposis colon cancer 2019-11-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln510*) in the MLH1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with Lynch syndrome in many families (PMID: 9788388, 10985134, 17087981), in an unrelated individual with colorectal cancer (PMID: 20864636) and as homozygous in an individual with constitutional mismatch repair deficiency syndrome (PMID: 24122200). It has been described as a recurrent mutation in the South African population (PMID: 9788388, 10985134, 17087981). The variant is also known as c.1549C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 89761). Loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). For these reasons, this variant has been classified as Pathogenic.

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