ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.428G>A (p.Gly143Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001420607 SCV001622924 uncertain significance Epilepsy, childhood absence 2 2020-05-06 criteria provided, single submitter clinical testing The inherited c.428G>A (p.Gly143Glu)variant identified in the GABRG2 gene substitutes a very well conserved Glycine for Glutamic Acid at amino acid 143/476 (coding exon 4/10). This variant is absent from gnomAD(v3.0) suggesting it is not a common benign variant in the populations represented in that database. In silico algorithms predict this variant to be Deleterious (Provean; score:-2.79) and Damaging (SIFT; score:0.012) to the function of the canonical transcript. The p.Gly143 residue is not within a mapped domain of GABRG3 (UniProtKB:P18507), but present in the N-terminal extracellular region of the protein where other missense variants have been described in individuals with GABRG2-associated epilepsy phenotypes [PMID:27066572; PMID:27367160]. This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. Given the lack of compelling evidence for its pathogenicity, the inherited c.428G>A (p.Gly143Glu) variant identified in the GABRG2 gene is reported here as a Variant of Uncertain Significance.

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