ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.797G>A (p.Arg266Gln) (rs796052259)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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).

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