ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00006  dbSNP: rs201520866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002499599 SCV001503074 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2020-07-21 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 affects the initiator methionine of the EFHC1 mRNA. The next in-frame methionine is located at codon 109. This variant is present in population databases (rs201520866, ExAC 0.01%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with EFHC1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies.
Fulgent Genetics, Fulgent Genetics RCV002499599 SCV002805594 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2021-10-07 criteria provided, single submitter clinical testing

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