Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002317991 | SCV000849562 | uncertain significance | Inborn genetic diseases | 2018-05-14 | criteria provided, single submitter | clinical testing | The p.C2085F variant (also known as c.6254G>T), located in coding exon 7 of the ANKRD11 gene, results from a G to T substitution at nucleotide position 6254. The cysteine at codon 2085 is replaced by phenylalanine, an amino acid with highly dissimilar 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. |