ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.932C>T (p.Thr311Ile)

dbSNP: rs1581220210
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000811800 SCV000952086 uncertain significance Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2018-09-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with GABRA1-related disease. 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. 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"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 311 of the GABRA1 protein (p.Thr311Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine.
GeneDx RCV001585744 SCV001812133 likely pathogenic not provided 2019-09-17 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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