Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001755259 | SCV002005339 | likely pathogenic | not provided | 2024-04-22 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation, as the last 389 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003389745 | SCV002074543 | uncertain significance | not specified | 2025-01-02 | criteria provided, single submitter | clinical testing | Variant summary: ZNF292 c.7003C>T (p.Arg2335X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein, which are commonly known mechanisms for disease. Variants downstream of this position have not been classified Pathogenic in ClinVar or by our lab. The variant was absent in 246004 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.7003C>T in individuals affected with Autosomal Dominant Intellectual Developmental Disorder 64 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1315597). Based on the evidence outlined above, the variant was classified as uncertain significance. |