Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
RCV000853315 | SCV000996165 | pathogenic | Schaaf-Yang syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | The c.187dupC (p.Gln63ProfsTer47), more commonly referred to as the c.1996dupC (p.Gln666ProfsTer47) in the literature due to the transcript used, is a frameshift variant predicted to result in a truncated protein with reduced protein function. This variant has been previously reported in multiple individuals in different families with Schaaf-Yang syndrome (also referred to as Prader-Willi-like syndrome) (PMID: 27195816, 25473036, 27632685, 28640240)(MIM: 615547). This variant has been previously classified as pathogenic for Schaaf-Yang syndrome in ClinVar (variant ID: 190122). This variant is present in gnomAD at 0.0021% (4/188652). Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the combined evidence, the c.1996dupC (p.Gln666ProfsTer47) variant is classified as pathogenic. |