Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Geisinger Autism and Developmental Medicine Institute, |
RCV000678321 | SCV000804380 | uncertain significance | Lesch-Nyhan syndrome | 2018-03-06 | criteria provided, single submitter | provider interpretation | This variant was identified in a 12 year old male with mild intellectual disability, motor speech disorder, adaptive deficits, dyspraxia, hypotonia, ADHD, bifid uvula, mild dolichocephaly, large ears, mild pectus excavatum, hypoplastic nipples, and slightly tapered fingers. This variant is absent from the gnomAD database. Computational prediction models are inconsistent. This variant has not been reported previously in the literature, to our knowledge. However, other missense variants in this exon are present in ClinVar and the Human Gene Mutation Database. This variant was not present in either of the proband's two healthy, adult brothers. Follow up urine testing included: uric acid (104.1 mg/dL) and creatinine (74 mg/dL). Additionally, whole exome sequencing also identified two additional variants of uncertain significance. |
| Gene |
RCV001756144 | SCV001988014 | uncertain significance | not provided | 2021-03-05 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30831305) |