Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000459274 | SCV000545726 | pathogenic | Familial adenomatous polyposis 2 | 2023-03-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 406830). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp427*) in the MUTYH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686). |
| Ambry Genetics | RCV001010733 | SCV001170972 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-07-17 | criteria provided, single submitter | clinical testing | The p.W427* pathogenic mutation (also known as c.1281G>A), located in coding exon 13 of the MUTYH gene, results from a G to A substitution at nucleotide position 1281. This changes the amino acid from a tryptophan to a stop codon within coding exon 13. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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 | RCV000459274 | SCV004198982 | likely pathogenic | Familial adenomatous polyposis 2 | 2023-03-09 | criteria provided, single submitter | clinical testing |