ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.1127C>A (p.Thr376Asn)

gnomAD frequency: 0.00001  dbSNP: rs761617651
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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 RCV001887239 SCV002165566 uncertain significance Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2022-07-26 criteria provided, single submitter clinical testing This variant is present in population databases (rs761617651, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with GABRA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1395710). 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 tolerated. 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. This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 376 of the GABRA1 protein (p.Thr376Asn).

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