Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000761223 | SCV000891178 | likely pathogenic | Familial multiple polyposis syndrome | 2016-12-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002386324 | SCV002693666 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-10-14 | criteria provided, single submitter | clinical testing | The p.C447* pathogenic mutation (also known as c.1341T>A), located in coding exon 10 of the APC gene, results from a T to A substitution at nucleotide position 1341. This changes the amino acid from a cysteine to a stop codon within coding exon 10. This alteration has been observed in at least one individual with a personal and/or family history that is consistent with Familial Adenomatous Polyposis-related disease (Ambry internal data). 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, |
RCV003336172 | SCV004043712 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-01 | 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. |