ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1288dup (p.Ile430fs)

gnomAD frequency: 0.00001  dbSNP: rs752642262
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002241428 SCV001399781 uncertain significance Typical absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2019-10-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile430Asnfs*24) in the EFHC1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs752642262, ExAC 0.01%). This variant has not been reported in the literature in individuals with EFHC1-related conditions. 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.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV004554851 SCV005044039 uncertain significance not provided 2024-01-29 criteria provided, single submitter clinical testing PM2

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