Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004522340 | SCV005029920 | uncertain significance | not specified | 2023-12-26 | criteria provided, single submitter | clinical testing | The p.L1236V variant (also known as c.3706C>G), located in coding exon 4 of the ALPK2 gene, results from a C to G substitution at nucleotide position 3706. The leucine at codon 1236 is replaced by valine, 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. |