Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003770259 | SCV001396500 | uncertain significance | Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 | 2022-03-23 | 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 C0"). ClinVar contains an entry for this variant (Variation ID: 952242). This variant has not been reported in the literature in individuals affected with EFHC1-related conditions. This variant is present in population databases (rs199604518, gnomAD 0.006%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 629 of the EFHC1 protein (p.Ile629Thr). |
| Ambry Genetics | RCV003353221 | SCV004062816 | uncertain significance | Inborn genetic diseases | 2023-08-28 | criteria provided, single submitter | clinical testing | The c.1886T>C (p.I629T) alteration is located in exon 11 (coding exon 11) of the EFHC1 gene. This alteration results from a T to C substitution at nucleotide position 1886, causing the isoleucine (I) at amino acid position 629 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |