Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003650518 | SCV000282718 | likely benign | Familial adenomatous polyposis 1 | 2023-06-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429085 | SCV002741823 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-03-14 | criteria provided, single submitter | clinical testing | The p.L831S variant (also known as c.2492T>C), located in coding exon 15 of the APC gene, results from a T to C substitution at nucleotide position 2492. The leucine at codon 831 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |