ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His) (rs147940248)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000256146 SCV000321397 uncertain significance not provided 2019-01-14 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ALDH7A1 gene. The R469H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R469H variantis observed in 19/6612 (0.3%) alleles from individuals of Finnish background in large population cohorts (Lek et al., 2016). This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, the R469H variant is a conservative amino acidsubstitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000327621 SCV000452304 uncertain significance Pyridoxine-dependent epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000327621 SCV000640310 likely benign Pyridoxine-dependent epilepsy 2017-01-19 criteria provided, single submitter clinical testing

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