ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.859G>T (p.Val287Leu) (rs796052493)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493269 SCV000583323 pathogenic not provided 2017-05-31 criteria provided, single submitter clinical testing The V287L variant in the GABRA1 gene has been reported previously in an individual with early onset epileptic encephalopathy, intellectual disability, brain MRI abnormalities, and a history of choreoathetosis (Kodera et al., 2016). The V287L variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The V287L variant is a conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Missense variants in nearby residues (T289P, T289A, T292I) have been reported in the Human Gene Mutation Database in association with GABRA1-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, we interpret V287L as a pathogenic variant

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