ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1549G>T (p.Gly517Ter)

dbSNP: rs63751705
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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) RCV000075239 SCV000106232 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV002399431 SCV002710134 pathogenic Hereditary cancer-predisposing syndrome 2019-01-27 criteria provided, single submitter clinical testing The p.G517* pathogenic mutation (also known as c.1549G>T), located in coding exon 13 of the MLH1 gene, results from a G to T substitution at nucleotide position 1549. This changes the amino acid from a glycine to a stop codon within coding exon 13. This alteration has been reported in a cohort of families suspected of having Lynch syndrome in an individual with sigmoid colorectal cancer at age 49 (Overbeek LI et al. Br. J. Cancer, 2007 May;96:1605-12). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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