ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1370G>A (p.Arg457His)

dbSNP: rs369468811
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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 RCV003771058 SCV001555902 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2020-09-16 criteria provided, single submitter clinical testing 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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 variant has not been reported in the literature in individuals with EFHC1-related conditions. This variant is present in population databases (rs369468811, ExAC 0.02%). This sequence change replaces arginine with histidine at codon 457 of the EFHC1 protein (p.Arg457His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine.

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