Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075239 | SCV000106232 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Ambry Genetics | RCV002399431 | SCV002710134 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-01-27 | criteria provided, single submitter | clinical testing | The p.G517* pathogenic mutation (also known as c.1549G>T), located in coding exon 13 of the MLH1 gene, results from a G to T substitution at nucleotide position 1549. This changes the amino acid from a glycine to a stop codon within coding exon 13. This alteration has been reported in a cohort of families suspected of having Lynch syndrome in an individual with sigmoid colorectal cancer at age 49 (Overbeek LI et al. Br. J. Cancer, 2007 May;96:1605-12). 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. |