Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000202742 | SCV000257849 | uncertain significance | not specified | 2014-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345725 | SCV002648897 | uncertain significance | Inborn genetic diseases | 2018-11-28 | criteria provided, single submitter | clinical testing | The p.A1870V variant (also known as c.5609C>T), located in coding exon 7 of the ANKRD11 gene, results from a C to T substitution at nucleotide position 5609. The alanine at codon 1870 is replaced by valine, 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. |