ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.723G>A (p.Gln241=)

gnomAD frequency: 0.00001  dbSNP: rs750912328
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003771197 SCV001569741 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2020-09-03 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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 variant has not been reported in the literature in individuals with EFHC1-related conditions. This variant is present in population databases (rs750912328, ExAC 0.03%). This sequence change affects codon 241 of the EFHC1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the EFHC1 protein.

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