ClinVar Miner

Submissions for variant NM_000807.4(GABRA2):c.527A>G (p.Asp176Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004577131 SCV005060985 uncertain significance Developmental and epileptic encephalopathy, 78 criteria provided, single submitter clinical testing The observed missense c.527A>G(p.Asp176Gly) variant in GABRA2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. The amino acid Asp at position 176 is changed to a Gly changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Asp176Gly in GABRA2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The variant is predicted as damaging by SIFT. For these reasons, this variant has been classified as Uncertain Significance.

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