ClinVar Miner

Submissions for variant NM_198903.2(GABRG2):c.501C>A (p.Asn167Lys) (rs1581351046)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806748 SCV000946763 likely pathogenic Epilepsy, childhood absence 2; Familial febrile seizures 8 2018-12-10 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 167 of the GABRG2 protein (p.Asn167Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with GABRG2-related disease (Invitae). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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