ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) (rs775157869)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484562 SCV000574199 uncertain significance not provided 2018-12-03 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the GABRA1 gene. The E403Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E403Q variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E403Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824853 SCV000965753 likely pathogenic Epileptic encephalopathy, early infantile, 19 2015-01-01 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000850482 SCV000992680 uncertain significance Marfanoid habitus and intellectual disability criteria provided, single submitter research

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