ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1492+1G>A

gnomAD frequency: 0.00001  dbSNP: rs191404037
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003767002 SCV000640921 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2021-06-07 criteria provided, single submitter clinical testing The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in EFHC1 cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance. This variant is present in population databases (rs191404037, ExAC 0.004%) but has not been reported in the literature in individuals with an EFHC1-related disease. This sequence change affects a donor splice site in intron 8 of the EFHC1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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