ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1292T>A (p.Leu431Ter)

dbSNP: rs63751315
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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) RCV000076116 SCV000107131 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Ambry Genetics RCV002381383 SCV002695465 pathogenic Hereditary cancer-predisposing syndrome 2018-11-09 criteria provided, single submitter clinical testing The p.L431* pathogenic mutation (also known as c.1292T>A), located in coding exon 8 of the MSH2 gene, results from a T to A substitution at nucleotide position 1292. This changes the amino acid from a leucine to a stop codon within coding exon 8. In a study of 1,721 German probands suspected of HNPCC, this mutation was detected in one family (Mangold E et al. Int. J. Cancer, 2005 Sep;116:692-702). 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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