Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000221156 | SCV000273397 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-05-30 | criteria provided, single submitter | clinical testing | The p.Q161* pathogenic mutation (also known as c.481C>T), located in coding exon 4 of the APC gene, results from a C to T substitution at nucleotide position 481. This changes the amino acid from a glutamine to a stop codon within coding exon 4. This variant has been reported in several individuals with familial adenomatous polyposis (Matsumoto T et al. Gut 2002 Mar;50(3):402-4; Vandrovcová J et al. Hum. Mutat. 2004 Apr;23(4):397; Friedl W et al. Hered. Cancer Clin. Pract. 2005 Sep;3(3):95-114; Poovorawan K et al. Asian Pac. J. Cancer Prev. 2012;13(10):5101-4). 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. |
Invitae | RCV003765401 | SCV000552519 | pathogenic | Familial adenomatous polyposis 1 | 2023-11-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln161*) in the APC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with adenomatous polyposis (PMID: 11839722, 20223039, 23244118). ClinVar contains an entry for this variant (Variation ID: 229997). For these reasons, this variant has been classified as Pathogenic. |
Clinical Genetics and Genomics, |
RCV001269625 | SCV001449745 | pathogenic | not provided | 2019-04-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001269625 | SCV003918295 | pathogenic | not provided | 2022-10-17 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 32025882, 11839722, 15024739, 20223039, 23244118) |
Myriad Genetics, |
RCV002229926 | SCV004044776 | pathogenic | Familial adenomatous polyposis 1 | 2023-04-26 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |