Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000309023 | SCV000464160 | uncertain significance | Juvenile myoclonic epilepsy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002229977 | SCV000963755 | uncertain significance | Typical absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 | 2021-07-14 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with asparagine at codon 187 of the EFHC1 protein (p.Asp187Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs148615781, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with EFHC1-related conditions. This missense change has been observed in at least one individual who was not affected with EFHC1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 357480). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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. |