Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000674639 | SCV000800009 | likely pathogenic | Multiple epiphyseal dysplasia type 4 | 2018-05-17 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001855612 | SCV002236491 | pathogenic | Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia | 2021-10-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SLC26A2 protein in which other variant(s) (p.Ala715Val) have been determined to be pathogenic (PMID: 11448940, 15294877, 21077204). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 558379). This variant has not been reported in the literature in individuals affected with SLC26A2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu644Trpfs*6) in the SLC26A2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 96 amino acid(s) of the SLC26A2 protein. |
| Baylor Genetics | RCV003472173 | SCV004201757 | likely pathogenic | Achondrogenesis, type IB | 2024-02-24 | criteria provided, single submitter | clinical testing |