ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.752G>A (p.Gly251Asp) (rs1064793933)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478430 SCV000567376 pathogenic not provided 2015-08-10 criteria provided, single submitter clinical testing The G251D substitution in the GABRA1 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The G251D variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G251D variant is a non-conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. A missense variant at the same residue (G251S) has been reported in the Human Gene Mutation Database in association with Dravet syndrome (Stenson et al., 2014; Carvill et al., 2014), supporting the functional importance of this residue of the protein. We interpret G251D as a pathogenic variant.

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