ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln)

dbSNP: rs1376907797
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000995773 SCV001150113 likely pathogenic Developmental and epileptic encephalopathy, 19 2019-08-07 criteria provided, single submitter clinical testing
Invitae RCV001869391 SCV002122082 uncertain significance Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2021-10-11 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 807607). This missense change has been observed in individual(s) with clinical features of GABRA1-related conditions (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glutamine at codon 147 of the GABRA1 protein (p.Arg147Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV000995773 SCV004027799 likely pathogenic Developmental and epileptic encephalopathy, 19 2023-06-19 criteria provided, single submitter clinical testing Criteria applied: PS2,PS4_MOD,PM2_SUP,PP2,PP3

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