Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
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. |