Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003535880 | SCV000936003 | pathogenic | Familial adenomatous polyposis 1 | 2018-08-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). This variant has been observed in an individual affected with familial adenomatous polyposis (PMID: 20685668). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln238*) in the APC gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV003307444 | SCV004001067 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-03-30 | criteria provided, single submitter | clinical testing | The p.Q238* pathogenic mutation (also known as c.712C>T), located in coding exon 6 of the APC gene, results from a C to T substitution at nucleotide position 712. This changes the amino acid from a glutamine to a stop codon within coding exon 6. This variant was identified in 1/863 colonic polyposis patients from a French cohort (Lagarde A et al. J Med Genet, 2010 Oct;47:721-2). 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. |
Myriad Genetics, |
RCV002537026 | SCV004044931 | pathogenic | Familial adenomatous polyposis 1 | 2023-04-27 | 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. |