Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002316850 | SCV000850621 | uncertain significance | Inborn genetic diseases | 2017-04-21 | criteria provided, single submitter | clinical testing | The p.A1193T variant (also known as c.3577G>A), located in coding exon 7 of the ANKRD11 gene, results from a G to A substitution at nucleotide position 3577. The alanine at codon 1193 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well 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. |