Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000196157 | SCV000250995 | likely pathogenic | not provided | 2014-11-24 | criteria provided, single submitter | clinical testing | The V721A variant in the AARS2 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The V721A variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The V721A variant is a conservative amino acid substitution, which occurs at a position that is well-conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. The V721A variant is a good candidate for a disease-causing mutation, however the possibility it may be a rare benign variant cannot be excluded. The variant is found in AARS2, panel(s). |
| Illumina Laboratory Services, |
RCV001163261 | SCV001325281 | uncertain significance | Combined oxidative phosphorylation defect type 8 | 2018-02-16 | 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. |