Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001021959 | SCV001183639 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-09-04 | criteria provided, single submitter | clinical testing | The p.S1385C variant (also known as c.4153A>T), located in coding exon 15 of the APC gene, results from an A to T substitution at nucleotide position 4153. The serine at codon 1385 is replaced by cysteine, 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. |