Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003742775 | SCV000647683 | pathogenic | Familial adenomatous polyposis 1 | 2017-04-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal at codon 233 (p.Gln233*) of 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. This particular variant has been reported in the literature co-segregating with disease in a large family affected with familial adenomatous polyposis (PMID: 7853377, as well as in several unrelated affected individuals (PMID: 20564245, 11559652). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV000563146 | SCV000676348 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-09-16 | criteria provided, single submitter | clinical testing | The p.Q233* pathogenic mutation (also known as c.697C>T), located in coding exon 6 of the APC gene, results from a C to T substitution at nucleotide position 697. This changes the amino acid from a glutamine to a stop codon within coding exon 6. This mutation has been identified in multiple FAP patients in the literature (Smith-Ravin J et al. J. Med. Genet., 1994 Nov;31:888-90; Wallis YL et al. J. Med. Genet., 1999 Jan;36:14-20). 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, |
RCV002527857 | SCV004045665 | 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. |
Genome |
RCV003330781 | SCV004037507 | not provided | APC-Associated Polyposis Disorders | no assertion provided | phenotyping only | Variant classified as Pathogenic and reported on 04-24-2017 by Invitae. Variant noted to be possible mosaic. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |