ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1451A>G (p.Tyr484Cys)

gnomAD frequency: 0.00002  dbSNP: rs201261630
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000350728 SCV000464172 uncertain significance Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765186 SCV001231420 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2020-12-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with EFHC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 205410). This variant is present in population databases (rs201261630, ExAC 0.001%). This sequence change replaces tyrosine with cysteine at codon 484 of the EFHC1 protein (p.Tyr484Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. 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. 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.

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