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