ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.458G>A (p.Arg153Gln)

gnomAD frequency: 0.00002  dbSNP: rs745600475
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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 RCV003771193 SCV001569074 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2020-06-16 criteria provided, single submitter clinical testing 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. This sequence change replaces arginine with glutamine at codon 153 of the EFHC1 protein (p.Arg153Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs745600475, ExAC 0.02%). This variant has been observed in one or more individuals who were not affected with juvenile myoclonic epilepsy, as well as in an affected relative (PMID: 22727576). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").

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