Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003770265 | SCV001404081 | uncertain significance | Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 | 2022-09-01 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 958394). This variant has not been reported in the literature in individuals affected with EFHC1-related conditions. This variant is present in population databases (rs757990962, gnomAD 0.01%). This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 65 of the EFHC1 protein (p.Leu65Ser). |