ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.364_369del (p.Ile122_Tyr123del)

dbSNP: rs1764582038
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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 RCV003770263 SCV001397812 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2019-07-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with EFHC1-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant is not present in population databases (ExAC no frequency). This variant, c.364_369del, results in the deletion of 2 amino acid(s) of the EFHC1 protein (p.Ile122_Tyr123del), but otherwise preserves the integrity of the reading frame.

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