ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1586C>A (p.Ala529Glu)

gnomAD frequency: 0.00001  dbSNP: rs759944784
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003766605 SCV000552791 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2019-05-14 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a EFHC1-related disease. This sequence change replaces alanine with glutamic acid at codon 529 of the EFHC1 protein (p.Ala529Glu). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and glutamic acid.

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