Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000494586 | SCV000583279 | uncertain significance | not provided | 2019-04-16 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Geisinger Autism and Developmental Medicine Institute, |
RCV000678310 | SCV000804369 | uncertain significance | Schaaf-Yang syndrome | 2017-08-29 | criteria provided, single submitter | provider interpretation | This variant was identified in a 4 year old male with developmental delays, autistic behaviors, and a history of seizures. The p.Pro118Leu variant is absent from the gnomAD database. Computational models predict it to be benign. It was inherited from the patient's father who has a mild history of learning problems and depression. Clinical correlation with Schaaf-Yang syndrome was thought to be poor. The MAGEL2 gene is not constrained for missense variation and variants reported in association with Schaaf-Yang syndrome are typically truncating and de novo (Fountain, 2017). Since the this gene is maternally imprinted, testing of paternal grandparents was discussed but has not been completed. |