ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1098del (p.Ile367fs)

gnomAD frequency: 0.00001  dbSNP: rs1181131881
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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 RCV003773170 SCV002275507 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2020-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile367Leufs*3) in the EFHC1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in EFHC1 cause disease. 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. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005238139 SCV005885031 uncertain significance not specified 2024-12-30 criteria provided, single submitter clinical testing Variant summary: EFHC1 c.1098delT (p.Ile367LeufsX3) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, however current evidence is not sufficient to establish loss of function as a mechanism for disease. The variant allele was found at a frequency of 8e-06 in 251294 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1098delT in individuals affected with Juvenile Myoclonic Epilepsy and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1482836). Based on the evidence outlined above, the variant was classified as uncertain significance.

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