ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.962T>C (p.Ile321Thr)

dbSNP: rs1765175867
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205046 SCV001376282 likely pathogenic Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2019-11-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 321 of the GABRG2 protein (p.Ile321Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of generalized epilepsy with febrile seizures plus (GEFS+) (Invitae). In at least one individual the variant was observed to be de novo. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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