Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001025603 | SCV001187826 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-11-15 | criteria provided, single submitter | clinical testing | The p.K2248* pathogenic mutation (also known as c.6742A>T), located in coding exon 15 of the APC gene, results from an A to T substitution at nucleotide position 6742. This changes the amino acid from a lysine to a stop codon within coding exon 15. 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, |
RCV003337348 | SCV004045063 | 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. |