ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.844G>A (p.Glu282Lys) (rs119454948)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213381 SCV001385009 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2019-08-08 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 282 of the CACNA1H protein (p.Glu282Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with childhood absence epilepsy (PMID: 12891677). ClinVar contains an entry for this variant (Variation ID: 2702). This variant has been reported to affect CACNA1H protein function (PMID: 14729682, 15888660). 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.
OMIM RCV000002821 SCV000022979 risk factor Epilepsy, childhood absence 6 2004-03-12 no assertion criteria provided literature only

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