Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000256146 | SCV000321397 | uncertain significance | not provided | 2023-01-11 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30043187, 32956737) |
| Illumina Laboratory Services, |
RCV000327621 | SCV000452304 | uncertain significance | Pyridoxine-dependent epilepsy | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Invitae | RCV000327621 | SCV000640310 | likely benign | Pyridoxine-dependent epilepsy | 2024-01-29 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002392780 | SCV002697800 | uncertain significance | Inborn genetic diseases | 2018-07-19 | criteria provided, single submitter | clinical testing | The p.R469H variant (also known as c.1406G>A), located in coding exon 15 of the ALDH7A1 gene, results from a G to A substitution at nucleotide position 1406. The arginine at codon 469 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Centre de Biologie Pathologie Génétique, |
RCV001252144 | SCV001427894 | uncertain significance | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |