Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000202284 | SCV000256080 | pathogenic | not provided | 2023-02-14 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26576547, 30676711, 34448180, 32074998) |
Prevention |
RCV003401090 | SCV004103627 | likely pathogenic | PPP2R5D-related condition | 2023-08-29 | criteria provided, single submitter | clinical testing | The PPP2R5D c.589G>A variant is predicted to result in the amino acid substitution p.Glu197Lys. This variant was reported, de novo, in an individual with developmental delays, intellectual disability, macrocephaly, hypotonia, congenital scoliosis and mild dysmorphic features (Shang et al. 2016. PubMed ID: 26576547). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic. |
Gene |
RCV001250808 | SCV001426291 | not provided | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | no assertion provided | literature only | ||
Genome |
RCV001250808 | SCV001443627 | likely pathogenic | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | 2017-12-15 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2017-12-15 and interpreted as Likely Pathogenic. Variant was initially reported on 2015-06-04 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar. |