Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000186734 | SCV000240301 | uncertain significance | not provided | 2013-07-24 | criteria provided, single submitter | clinical testing | p.Arg266Gln (CGA>CAA): c.797 G>A in exon 9 of the ALDH7A1 gene (NM_001182.3). The Arg266Gln missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a non-conservative amino acid substitution of a positively charged Arginine residue with an uncharged Glutamine residue at a position that is not conserved across species. In silico analysis is inconsistent with regard to the effect this variant may have on the protein structure/function. Therefore, based on the currently available information, it is unclear whether Arg266Gln is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s). |