ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.1186G>T (p.Val396Leu)

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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 RCV003639466 SCV004386137 uncertain significance Idiopathic generalized epilepsy 2023-09-12 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. 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. This variant has not been reported in the literature in individuals affected with GABRD-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 396 of the GABRD protein (p.Val396Leu).

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