ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.487A>G (p.Met163Val)

dbSNP: rs1060502666
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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 RCV000461344 SCV000550355 pathogenic Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2021-05-06 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 variant has been observed in individual(s) with GABRB3-related conditions (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 409957). This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with valine at codon 163 of the GABRB3 protein (p.Met163Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine.
Ambry Genetics RCV000624061 SCV000743083 uncertain significance Inborn genetic diseases 2017-11-07 criteria provided, single submitter clinical testing

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