ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.880C>T (p.Arg294Cys)

gnomAD frequency: 0.00003  dbSNP: rs201543041
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003768064 SCV000822633 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2020-10-01 criteria provided, single submitter clinical testing 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with seizures of post-traumatic etiology (PMID: 31875159). ClinVar contains an entry for this variant (Variation ID: 572744). This variant is present in population databases (rs201543041, ExAC 0.01%). This sequence change replaces arginine with cysteine at codon 294 of the EFHC1 protein (p.Arg294Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. 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.
Fulgent Genetics, Fulgent Genetics RCV000694200 SCV000897309 uncertain significance Absence seizure; Juvenile myoclonic epilepsy 2018-10-31 criteria provided, single submitter clinical testing

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