Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000413595 | SCV000492142 | likely pathogenic | not provided | 2016-12-07 | criteria provided, single submitter | clinical testing | The G1203X variant in the APC gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This substitution creates a nonsense variant, which changes a Glycine to a premature stop codon (GGA>TGA), and is predicted to cause loss of normal protein function through protein truncation as the last 1641 amino acids of the APC protein are lost. The G1203X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Based on currently available evidence, G1203X is a strong candidate for a pathogenic variant. However, the possibility it may be a rare benign variant cannot be excluded. |
Ambry Genetics | RCV002450956 | SCV002617430 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-06-28 | criteria provided, single submitter | clinical testing | The p.G1203* pathogenic mutation (also known as c.3607G>T), located in coding exon 15 of the APC gene, results from a G to T substitution at nucleotide position 3607. This changes the amino acid from a glycine 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. |