ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.638C>T (p.Ser213Leu)

dbSNP: rs1754664529
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001231906 SCV001404443 uncertain significance Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2019-07-18 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with GABRA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with leucine at codon 213 of the GABRA1 protein (p.Ser213Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine.

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