ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.1178C>T (p.Ser393Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005085405 SCV005715538 uncertain significance Idiopathic generalized epilepsy 2024-03-30 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 393 of the GABRD protein (p.Ser393Leu). This variant is present in population databases (rs201841854, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with GABRD-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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