ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.1112C>T (p.Thr371Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003487852 SCV004235094 uncertain significance not provided 2023-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003525420 SCV004263965 uncertain significance Idiopathic generalized epilepsy 2023-03-18 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 disruptive. This variant has not been reported in the literature in individuals affected with GABRD-related conditions. This variant is present in population databases (rs750302215, gnomAD 0.003%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 371 of the GABRD protein (p.Thr371Met).

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