Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003743625 | SCV002231503 | pathogenic | Familial adenomatous polyposis 1 | 2021-08-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln349*) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 217918). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002399752 | SCV002707126 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-10-19 | criteria provided, single submitter | clinical testing | The p.Q349* pathogenic mutation (also known as c.1045C>T), located in coding exon 9 of the APC gene, results from a C to T substitution at nucleotide position 1045. This changes the amino acid from a glutamine to a stop codon within coding exon 9. This alteration has been observed in at least one individual with a personal and/or family history that is consistent with APC-related disease (Ambry internal data). 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. |
| Mayo Clinic Laboratories, |
RCV000202206 | SCV000256908 | likely pathogenic | not provided | no assertion criteria provided | research |