Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002318071 | SCV000849727 | uncertain significance | Inborn genetic diseases | 2017-05-28 | criteria provided, single submitter | clinical testing | The p.P1988S variant (also known as c.5962C>T), located in coding exon 7 of the ANKRD11 gene, results from a C to T substitution at nucleotide position 5962. The proline at codon 1988 is replaced by serine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |