Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000693426 | SCV000821294 | uncertain significance | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2019-02-11 | 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"). This variant has not been reported in the literature in individuals with CACNA1A-related disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces arginine with glutamine at codon 976 of the CACNA1A protein (p.Arg976Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. |
| Illumina Laboratory Services, |
RCV001249729 | SCV001423759 | uncertain significance | Developmental and epileptic encephalopathy, 42 | 2019-10-28 | criteria provided, single submitter | clinical testing | The CACNA1A c.2927G>A (p.Arg976Gln) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Arg976Gln is classified as a variant of unknown significance for early infantile epileptic encephalopathy. |