ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.706C>T (p.Gln236Ter)

dbSNP: rs63750996
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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) RCV000075026 SCV000108247 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV002362704 SCV002661556 pathogenic Hereditary cancer-predisposing syndrome 2017-11-21 criteria provided, single submitter clinical testing The p.Q236* pathogenic mutation (also known as c.706C>T), located in coding exon 4 of the MSH6 gene, results from a C to T substitution at nucleotide position 706. This changes the amino acid from a glutamine to a stop codon within coding exon 4. This mutation was identified once in a cohort of 91 Spanish HNPCC families. The proband had both colorectal and uterine cancer diagnosed at age 54 and both tumors were MSS and showed absent MSH6 staining on IHC (Sánchez de Abajo A et al. World J. Gastroenterol., 2005 Oct;11:5770-6). 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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