ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.1100C>T (p.Ala367Val)

gnomAD frequency: 0.00001  dbSNP: rs1020129541
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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 RCV001315096 SCV001505652 uncertain significance Idiopathic generalized epilepsy 2022-07-12 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 367 of the GABRD protein (p.Ala367Val). This variant has not been reported in the literature in individuals affected with GABRD-related conditions. 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: 1016132).

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