ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.1151C>T (p.Pro384Leu)

gnomAD frequency: 0.00001  dbSNP: rs764066786
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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 RCV001065869 SCV001230856 uncertain significance Idiopathic generalized epilepsy 2022-11-08 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 859701). This variant has not been reported in the literature in individuals affected with GABRD-related conditions. This variant is present in population databases (rs764066786, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 384 of the GABRD protein (p.Pro384Leu).

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