Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003772949 | SCV002243143 | pathogenic | Familial adenomatous polyposis 1 | 2024-09-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys153*) 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 (gnomAD 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: 1456697). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002334972 | SCV002637018 | pathogenic | Hereditary cancer-predisposing syndrome | 2024-07-03 | criteria provided, single submitter | clinical testing | The p.K153* pathogenic mutation (also known as c.457A>T), located in coding exon 4 of the APC gene, results from an A to T substitution at nucleotide position 457. This changes the amino acid from a lysine to a stop codon within coding exon 4. 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, |
RCV003772949 | SCV004043996 | pathogenic | Familial adenomatous polyposis 1 | 2023-04-26 | 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. |