Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000412994 | SCV000491792 | uncertain significance | not specified | 2016-11-15 | criteria provided, single submitter | clinical testing | The c.1515 G>A variant in the AARS gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1515 G>A variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In-silico splice prediction models are unable to predict if the c.1515 G>A variant affect splicing of the AARS gene and in the absence of RNA/functional studies, the effect of this sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
| Ambry Genetics | RCV002461136 | SCV002755314 | likely benign | Inborn genetic diseases | 2019-07-11 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Labcorp Genetics |
RCV003581653 | SCV004272978 | likely benign | Charcot-Marie-Tooth disease type 2 | 2024-08-08 | criteria provided, single submitter | clinical testing |