Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002318835 | SCV000850259 | uncertain significance | Inborn genetic diseases | 2016-10-06 | criteria provided, single submitter | clinical testing | The p.E1467D variant (also known as c.4401G>T), located in coding exon 7 of the ANKRD11 gene, results from a G to T substitution at nucleotide position 4401. The glutamic acid at codon 1467 is replaced by aspartic acid, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6498 samples (12996 alleles) with coverage at this position. This amino acid position is 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 variant remains unclear. |