Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000523998 | SCV000619539 | pathogenic | not provided | 2019-09-24 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge |
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678384 | SCV000804452 | likely pathogenic | Intellectual disability, X-linked 97 | 2017-09-25 | criteria provided, single submitter | provider interpretation | This 16 year old male with moderate intellectual disability, obsessive compulsive behaviors, and growth failure was found to carry a de novo variant in the ZNF711 gene. He is non-dysmorphic, in the 2nd percentile for weight, and in the 7th percentile for height. Pathogenic variants in this gene, including truncating variants, are associated with mild to moderate intellectual disability. Mild dysmorphic features and obesity have been reported in other individuals with pathogenic variants in this gene. The variant is absent from population databases and has not been reported previously in affected individuals, to our knowledge. This variant causes a frameshift and is predicted to cause loss of normal protein function. |