ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.268G>C (p.Asp90His) (rs796052488)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187494 SCV000241088 pathogenic not provided 2013-06-13 criteria provided, single submitter clinical testing p.Asp90His (GAT>CAT): c.268 G>C in exon 6 of the GABRA1 gene (NM_000806.5). The Asp90His 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. Asp90His is a non-conservative amino acid substitution as a negatively charged Aspartic acid residue is replaced by a positively charged Histidine residue. The change occurs at a highly conserved position in the extracellular domain of the GABRA1 protein, and multiple in silico algorithms predict that Asp90His is possibly damaging to the structure/function of the GABRA1 protein. Based on the currently available information, Asp90His is a strong candidate for a disease-causing mutation, although the possibility that it is a benign variant cannot be excluded. The variant is found in EPILEPSY panel(s).

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