ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.564A>G (p.Gln188=)

gnomAD frequency: 0.00001  dbSNP: rs766444850
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000325837 SCV000339324 uncertain significance not provided 2016-02-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765636 SCV000640929 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2020-06-22 criteria provided, single submitter clinical testing This sequence change affects codon 188 of the EFHC1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the EFHC1 protein. In summary, this is a rare silent change with uncertain impact on splicing. 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 may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a EFHC1-related disease.

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