Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV000507891 | SCV000605440 | uncertain significance | not provided | 2017-05-25 | criteria provided, single submitter | clinical testing | The p.Val1291Ile variant has not been reported in the scientific literature or gene specific variant databases nor has it been previously identified in our laboratory. This variant (rs142078341) is listed in the Genome Aggregation Database (gnomAD) browser with an overall allele frequency of 0.003 percent (identified on 7 out of 276,938 chromosomes). The valine 1291 is highly conserved considering 12 species (Alamut version 2.9.0), but Chinese tree shrew has isoleucine at this position suggesting that this amino acid change may be evolutionary tolerated. Additionally, computational programs predict mixed effect of this variant on the protein (SIFT: tolerated, PolyPhen-2: possibly damaging, MutationTaster: disease causing). Based on the available information, the clinical significance of p.Val1291Ile variant cannot be determined with certainty. |
| Illumina Laboratory Services, |
RCV001117017 | SCV001275166 | uncertain significance | Achondrogenesis, type IA | 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 | RCV001117017 | SCV002214194 | uncertain significance | Achondrogenesis, type IA | 2021-08-30 | criteria provided, single submitter | clinical testing |