ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.1031A>T (p.Lys344Met)

dbSNP: rs1659031445
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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 RCV001345368 SCV001539479 uncertain significance Idiopathic generalized epilepsy 2023-07-03 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with methionine, which is neutral and non-polar, at codon 344 of the GABRD protein (p.Lys344Met). 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1041545). This variant has not been reported in the literature in individuals affected with GABRD-related conditions. This variant is not present in population databases (gnomAD no frequency).

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