ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.881C>T (p.Thr294Ile) (rs796052495)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187503 SCV000241097 pathogenic not provided 2017-10-09 criteria provided, single submitter clinical testing The T294I variant in the GABRA1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The T294I variant is not observed in large population cohorts (Lek et al., 2016). The T294I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (T289A, T289P, T292I) have been reported in the Human Gene Mutation Database in association with GABRA1-related disorder (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret T294I as a pathogenic variant.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000187503 SCV001247876 pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing

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