Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000169481 | SCV000220932 | likely pathogenic | Multiple epiphyseal dysplasia type 4 | 2014-12-02 | criteria provided, single submitter | literature only | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780715 | SCV000918222 | likely pathogenic | Sulfate transporter-related osteochondrodysplasia | 2018-10-22 | criteria provided, single submitter | clinical testing | Variant summary: SLC26A2 c.451delT (p.Tyr151IlefsX21) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g., p.Arg178X and p.Lys575fsX10). The variant allele was found at a frequency of 1.7e-05 in 238100 control chromosomes (gnomAD). c.451delT has been reported in the literature in one individual affected with Sulfate Transporter-Related Osteochondrodysplasia. To our knowledge, no experimental evidence demonstrating an impact on protein function has 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. |
| Invitae | RCV001850400 | SCV002245698 | pathogenic | Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia | 2023-09-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Tyr151Ilefs*21) in the SLC26A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC26A2 are known to be pathogenic (PMID: 7923357, 10482955, 11241838). This variant is present in population databases (rs775460563, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with achondrogenesis (PMID: 8528239). This variant is also known as deltaT476. ClinVar contains an entry for this variant (Variation ID: 189077). |
| Fulgent Genetics, |
RCV001850400 | SCV002809796 | likely pathogenic | Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia | 2021-12-02 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV004567368 | SCV005056819 | pathogenic | Achondrogenesis, type IB | 2024-02-06 | criteria provided, single submitter | clinical testing |