Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics | RCV000713275 | SCV000843864 | pathogenic | not provided | 2017-09-15 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002509522 | SCV002819745 | pathogenic | Leri-Weill dyschondrosteosis | 2022-12-01 | criteria provided, single submitter | clinical testing | Variant summary: SHOX c.352_353delAG (p.Arg118AlafsX63) 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 and associated with disease in HGMD. The variant was absent in 249788 control chromosomes. c.352_353delAG has been reported in the literature in individuals affected with Leri-Weill Dyschondrosteosis (Bunyan_2013) and Short Stature (Chen_2022). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |