ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.718C>T (p.His240Tyr)

dbSNP: rs1659011884
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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 RCV001296308 SCV001485267 uncertain significance Idiopathic generalized epilepsy 2020-08-29 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tyrosine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with GABRD-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with tyrosine at codon 240 of the GABRD protein (p.His240Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine.

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