Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004048139 | SCV002622391 | uncertain significance | not specified | 2024-04-07 | criteria provided, single submitter | clinical testing | The p.D1270E variant (also known as c.3810C>A), located in coding exon 4 of the ALPK2 gene, results from a C to A substitution at nucleotide position 3810. The aspartic acid at codon 1270 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is conserved. 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. |