ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.646C>T (p.Arg216Ter)

gnomAD frequency: 0.00004  dbSNP: rs377165334
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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 RCV003768532 SCV000958256 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2020-05-21 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in EFHC1 cause disease. This variant has not been reported in the literature in individuals with EFHC1-related disease. This variant is present in population databases (rs377165334, ExAC 0.006%). This sequence change creates a premature translational stop signal (p.Arg216*) in the EFHC1 gene. It is expected to result in an absent or disrupted protein product.

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