Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001016705 | SCV001177691 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-03-20 | criteria provided, single submitter | clinical testing | The p.S943* pathogenic mutation (also known as c.2828C>G), located in coding exon 15 of the APC gene, results from a C to G substitution at nucleotide position 2828. This changes the amino acid from a serine to a stop codon within coding exon 15. This alteration has been reported in several individuals with familial adenomatous polyposis (FAP) from diverse geographic regions in the literature (Gavert N et al. Hum. Mutat. 2002 Jun;19(6):664, Kimi DW et al. Hum. Mutat. 2005 Sep;26(3):281, Khan N et al. Sci. Rep., 2017 05;7:2214). In addition to the clinical data presented in the literature, since premature stop codons are typically deleterious in nature, 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, |
RCV003336247 | SCV004045623 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-05 | 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. |