Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001012023 | SCV001172422 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-08-29 | criteria provided, single submitter | clinical testing | The c.1529_1530delTT pathogenic mutation, located in coding exon 11 of the APC gene, results from a deletion of two nucleotides at nucleotide positions 1529 to 1530, causing a translational frameshift with a predicted alternate stop codon (p.F510Wfs*26). In a large (n=1591) series of patients referred for APC testing, this alteration was detected in 1 individual (Kerr SE et al. J Mol Diagn, 2013 Jan;15:31-43). 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. |
Labcorp Genetics |
RCV004563633 | SCV003525935 | pathogenic | Familial adenomatous polyposis 1 | 2021-12-27 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 819459). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with a personal and/or family history suspected of familial adenomatous polyposis (PMID: 23159591). This sequence change creates a premature translational stop signal (p.Phe510Trpfs*26) 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). |