Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000562556 | SCV000675944 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-07-18 | criteria provided, single submitter | clinical testing | The c.465delA pathogenic mutation, located in coding exon 4 of the APC gene, results from a deletion of one nucleotide at nucleotide position 465, causing a translational frameshift with a predicted alternate stop codon (p.D156Tfs*14). 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 | RCV002529017 | SCV001219974 | pathogenic | Familial adenomatous polyposis 1 | 2019-11-27 | 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 individual(s) with clinical features of familial adenomatous polyposis (Invitae). ClinVar contains an entry for this variant (Variation ID: 486788). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp156Thrfs*14) in the APC gene. It is expected to result in an absent or disrupted protein product. |