ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.666TGT[1] (p.Val224del)

dbSNP: rs2140730286
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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 RCV001361743 SCV001557730 uncertain significance Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-04-24 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with clinical features of GABRB3-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This variant, c.669_671del, results in the deletion of 1 amino acid(s) of the GABRB3 protein (p.Val224del), but otherwise preserves the integrity of the reading frame.
New York Genome Center RCV002227523 SCV002506657 uncertain significance Developmental and epileptic encephalopathy, 43 2021-06-04 criteria provided, single submitter clinical testing The heterozygous in-frame deletion c.669_671del, p.Val224del in the GABRB3 gene has not been reported in individuals with developmental and epileptic encephalopathy-43. The variant is absent in the gnomAD v3.1.1 database, indicating a rare allele and in silico tools predict conflicting evidence of pathogenicity. Based on the available evidence, the variant c.669_671del, p.Val224del in the GABRB3 gene is classified as a variant of uncertain significance.

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