ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.653A>C (p.Tyr218Ser)

dbSNP: rs1754665353
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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 RCV001313478 SCV001503975 uncertain significance Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2020-07-07 criteria provided, single submitter clinical testing 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 tyrosine with serine at codon 218 of the GABRA1 protein (p.Tyr218Ser). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and serine. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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