Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000483363 | SCV000570990 | uncertain significance | not provided | 2016-07-26 | criteria provided, single submitter | clinical testing | The E703D variant in the CACNA2D4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although not present in the homozgyous state, the NHLBI Exome Sequencing Project reports E703D was observed in 79/4070 (1.94%) alleles from individuals of African American background, indicating it may be a rare variant in this population. The E703D variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret E703D as a variant of uncertain significance. |
| Labcorp Genetics |
RCV000483363 | SCV001093582 | benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001110110 | SCV001267504 | benign | Retinal cone dystrophy 4 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |