Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| International Society for Gastrointestinal Hereditary Tumours |
RCV000074796 | SCV000108007 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
| Ambry Genetics | RCV002433574 | SCV002753392 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-09-14 | criteria provided, single submitter | clinical testing | The p.W1007* pathogenic mutation (also known as c.3020G>A), located in coding exon 4 of the MSH6 gene, results from a G to A substitution at nucleotide position 3020. This changes the amino acid from a tryptophan to a stop codon within coding exon 4. This variant, referred to as c.3073G>A p.W1024X, was reported in an individual with constitutional mismatch repair deficiency (CMMRD) diagnosed with astrocytoma at age 9, T-cell lymphoma at age 10, cafe'-au-lait spots and axillary freckling. One sibling was diagnosed with glioblastoma at age 3 and the maternal family met Amsterdam II criteria (Ostergaard JR et al. Am. J. Med. Genet. A, 2005 Dec;139A:96-105; discussion 96). 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. |
| OMIM | RCV000009493 | SCV000029711 | pathogenic | Mismatch repair cancer syndrome 3 | 2005-12-01 | no assertion criteria provided | literature only | |
| OMIM | RCV000202503 | SCV000257495 | pathogenic | Lynch syndrome 5 | 2005-12-01 | no assertion criteria provided | literature only |