ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1225G>T (p.Val409Leu) (rs796052263)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186741 SCV000240308 uncertain significance not provided 2013-01-25 criteria provided, single submitter clinical testing p.Val409Leu (GTA>TTA): c.1225 G>T in exon 14 of the ALDH7A1 gene (NM_001182.3). The Val409Leu missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Val409Leu in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. The amino acid substitution is conservative, as Valine and Leucine are both uncharged, non-polar amino acids. However, it alters a highly conserved position in the protein, and missense mutations have been reported at nearby codons in association with pyridoxine-dependent epilepsy. Additionally, multiple in silico algorithms predict Val409Leu may be damaging to protein structure/function. Therefore, based on the currently available information, it is unclear whether Val409Leu is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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