Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001026311 | SCV001188666 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-03-19 | criteria provided, single submitter | clinical testing | The p.S245* pathogenic mutation (also known as c.734C>A), located in coding exon 7 of the APC gene, results from a C to A substitution at nucleotide position 734. This changes the amino acid from a serine to a stop codon within coding exon 7. 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 | RCV003744599 | SCV003220488 | pathogenic | Familial adenomatous polyposis 1 | 2022-08-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 492654). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser245*) 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). |
| Myriad Genetics, |
RCV003336075 | SCV004044817 | 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. |
| Mayo Clinic Laboratories, |
RCV000584600 | SCV000691708 | pathogenic | not provided | no assertion criteria provided | clinical testing |