ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.1229A>G (p.Lys410Arg) (rs376031361)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000595769 SCV000702101 uncertain significance not provided 2016-10-11 criteria provided, single submitter clinical testing
Invitae RCV001246645 SCV001420017 uncertain significance Idiopathic generalized epilepsy; Epilepsy, juvenile myoclonic 5; Epilepsy, childhood absence 4 2019-11-12 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 410 of the GABRA1 protein (p.Lys410Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GABRA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 497531). This variant has been reported not to substantially affect GABRA1 protein function (PMID: 27622563). 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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