ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1000A>T (p.Lys334Ter)

dbSNP: rs587779063
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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) RCV000075993 SCV000107003 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variant introducing a premature termination codon
Ambry Genetics RCV002321565 SCV002626208 pathogenic Hereditary cancer-predisposing syndrome 2019-07-19 criteria provided, single submitter clinical testing The p.K334* pathogenic mutation (also known as c.1000A>T), located in coding exon 6 of the MSH2 gene, results from an A to T substitution at nucleotide position 1000. This changes the amino acid from a lysine to a stop codon within coding exon 6. 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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