ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.863C>T (p.Thr288Ile)

dbSNP: rs1755330256
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236606 SCV001409338 pathogenic Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2022-10-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 962701). This missense change has been observed in individual(s) with clinical features of GABRA1-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 288 of the GABRA1 protein (p.Thr288Ile). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GABRA1 protein function. For these reasons, this variant has been classified as Pathogenic.

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