ClinVar Miner

Submissions for variant NM_198903.2(GABRG2):c.41A>G (p.Tyr14Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720361 SCV000851238 uncertain significance Seizures 2016-09-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000794979 SCV000934417 uncertain significance Epilepsy, childhood absence 2; Familial febrile seizures 8 2018-12-21 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 14 of the GABRG2 protein (p.Tyr14Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs61750979, ExAC 0.003%). This variant has not been reported in the literature in individuals with GABRG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 589917). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine 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.

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