Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003768516 | SCV000952178 | uncertain significance | Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 | 2018-09-10 | 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with EFHC1-related disease. This variant is present in population databases (rs760025678, ExAC 0.006%). This sequence change replaces glycine with arginine at codon 49 of the EFHC1 protein (p.Gly49Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. |
| Ambry Genetics | RCV004028747 | SCV004862658 | uncertain significance | not specified | 2024-01-30 | criteria provided, single submitter | clinical testing | The c.145G>A (p.G49R) alteration is located in exon 2 (coding exon 2) of the EFHC1 gene. This alteration results from a G to A substitution at nucleotide position 145, causing the glycine (G) at amino acid position 49 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |