Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001026057 | SCV001188365 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-07-05 | criteria provided, single submitter | clinical testing | The p.Q2372* pathogenic mutation (also known as c.7114C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 7114. This changes the amino acid from a glutamine to a stop codon within coding exon 15. This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation. |
| Invitae | RCV002551948 | SCV001372585 | pathogenic | Familial adenomatous polyposis 1 | 2019-06-04 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the APC gene (p.Gln2372*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 472 amino acids of the APC protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related conditions. A different truncation (p.Tyr2645Lysfs*14) that lies downstream of this variant has been determined to be pathogenic (PMID: 9824584, 1316610, 27081525, 8381579, 22135120, Invitae). This suggests that deletion of this region of the APC protein is causative of disease. For these reasons, this variant has been classified as Pathogenic. |
| Myriad Genetics, |
RCV003336271 | SCV004045077 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-16 | 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. |