ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.860C>T (p.Thr287Ile)

dbSNP: rs1595440448
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001994878 SCV002231330 pathogenic Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2022-04-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 GABRB3 protein function. This missense change has been observed in individual(s) with early infantile epileptic encephalopathy (PMID: 26645412, 26993267). 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 287 of the GABRB3 protein (p.Thr287Ile).
OMIM RCV002307810 SCV002600215 pathogenic Developmental and epileptic encephalopathy, 43 2022-11-14 no assertion criteria provided literature only

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