Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002315458 | SCV000849369 | uncertain significance | Inborn genetic diseases | 2017-04-18 | criteria provided, single submitter | clinical testing | The p.D2150N variant (also known as c.6448G>A), located in coding exon 7 of the ANKRD11 gene, results from a G to A substitution at nucleotide position 6448. The aspartic acid at codon 2150 is replaced by asparagine, an amino acid with highly 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. |