ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.915A>G (p.Ala305=)

dbSNP: rs1060503381
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003766607 SCV000552793 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2022-10-01 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 sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 411572). This variant has not been reported in the literature in individuals affected with EFHC1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.06%). This sequence change affects codon 305 of the EFHC1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the EFHC1 protein. It affects a nucleotide within the consensus splice site.

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