Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193470 | SCV001362331 | likely pathogenic | Sulfate transporter-related osteochondrodysplasia | 2019-05-10 | criteria provided, single submitter | clinical testing | Variant summary: SLC26A2 c.1655C>A (p.Ser552X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. A truncation downstream of this position (c.1724delA (p.Lys575fsX10)) has been classified as pathogenic by our laboratory. The variant was absent in 250928 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1655C>A in individuals affected with Sulfate Transporter-Related Osteochondrodysplasia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Labcorp Genetics |
RCV001390701 | SCV001592502 | pathogenic | Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia | 2023-09-17 | 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.Thr689Serfs*22) have been determined to be pathogenic (Invitae). 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: 928888). This variant has not been reported in the literature in individuals affected with SLC26A2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser552*) in the SLC26A2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 188 amino acid(s) of the SLC26A2 protein. |
| Baylor Genetics | RCV003473731 | SCV004201735 | likely pathogenic | Achondrogenesis, type IB | 2023-11-21 | criteria provided, single submitter | clinical testing |