Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002481992 | SCV001219073 | uncertain significance | Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 | 2019-02-18 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). This variant has not been reported in the literature in individuals with EFHC1-related conditions. This variant is present in population databases (rs186911667, ExAC 0.003%). This sequence change replaces asparagine with lysine at codon 481 of the EFHC1 protein (p.Asn481Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. |
| Fulgent Genetics, |
RCV002481992 | SCV002780764 | uncertain significance | Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 | 2021-10-25 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004619498 | SCV005116526 | uncertain significance | not specified | 2024-05-24 | criteria provided, single submitter | clinical testing | The c.1443C>G (p.N481K) alteration is located in exon 8 (coding exon 8) of the EFHC1 gene. This alteration results from a C to G substitution at nucleotide position 1443, causing the asparagine (N) at amino acid position 481 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |