Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001212481 | SCV001384064 | pathogenic | Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia | 2019-10-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the SLC26A2 protein. Other variant(s) that disrupt this region (p.Thr627Leufs*23) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with SLC26A2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the SLC26A2 gene (p.Glu593*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 147 amino acids of the SLC26A2 protein. |
| Prevention |
RCV003398944 | SCV004110098 | likely pathogenic | SLC26A2-related condition | 2023-06-08 | criteria provided, single submitter | clinical testing | The SLC26A2 c.1777G>T variant is predicted to result in premature protein termination (p.Glu593*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in SLC26A2 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |
| Baylor Genetics | RCV003473759 | SCV004201797 | likely pathogenic | Achondrogenesis, type IB | 2022-09-23 | criteria provided, single submitter | clinical testing |