Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003768981 | SCV001235854 | uncertain significance | Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 | 2020-06-26 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with leucine at codon 151 of the EFHC1 protein (p.Arg151Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is present in population databases (rs191656603, ExAC 0.02%). This variant has not been reported in the literature in individuals with EFHC1-related conditions. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |
| Ambry Genetics | RCV002554603 | SCV003538255 | uncertain significance | Inborn genetic diseases | 2022-10-12 | criteria provided, single submitter | clinical testing | The c.452G>T (p.R151L) alteration is located in exon 3 (coding exon 3) of the EFHC1 gene. This alteration results from a G to T substitution at nucleotide position 452, causing the arginine (R) at amino acid position 151 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |