Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001023769 | SCV001185688 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-04-14 | criteria provided, single submitter | clinical testing | The p.W174* pathogenic mutation (also known as c.522G>A), located in coding exon 7 of the MUTYH gene, results from a G to A substitution at nucleotide position 522. This changes the amino acid from a tryptophan to a stop codon within coding exon 7. This alteration has been reported in a compound heterozygous state in a male patient with 100 tubulovillous adenomas of the ascending colon at age 35 (Di Gregorio C et al. Gastroenterology, 2006 Aug;131:439-44). This alteration has also been reported in a compound heterozygous state in a male patient with 30 colon polyps at age 35 (Cattaneo F et al. Genet. Med., 2007 Dec;9:836-41). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, 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. |
| Baylor Genetics | RCV003461398 | SCV004198970 | pathogenic | Familial adenomatous polyposis 2 | 2023-04-16 | criteria provided, single submitter | clinical testing |