ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.800A>G (p.Tyr267Cys)

dbSNP: rs886061629
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000260926 SCV000464165 uncertain significance Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766056 SCV001513251 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2022-03-19 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. 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. ClinVar contains an entry for this variant (Variation ID: 357482). This variant has not been reported in the literature in individuals affected with EFHC1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 267 of the EFHC1 protein (p.Tyr267Cys).
PreventionGenetics, part of Exact Sciences RCV004758005 SCV005359203 uncertain significance EFHC1-related disorder 2024-06-24 no assertion criteria provided clinical testing The EFHC1 c.800A>G variant is predicted to result in the amino acid substitution p.Tyr267Cys. This variant has been reported with uncertain significance in an individual with epilepsy and ataxia (Table S6, Ganapathy et al. 2019. PubMed ID: 31069529). This variant has not been reported in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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