ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1549G>T (p.Glu517Ter)

dbSNP: rs1765630267
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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 RCV002241898 SCV001498521 uncertain significance Typical absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2020-03-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu517Phefs*2) in the EFHC1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EFHC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 534105). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in EFHC1 cause disease. 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.

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