Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003767002 | SCV000640921 | uncertain significance | Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 | 2021-06-07 | criteria provided, single submitter | clinical testing | The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in EFHC1 cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance. This variant is present in population databases (rs191404037, ExAC 0.004%) but has not been reported in the literature in individuals with an EFHC1-related disease. This sequence change affects a donor splice site in intron 8 of the EFHC1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |