ClinVar Miner

Submissions for variant NM_006245.4(PPP2R5D):c.589G>A (p.Glu197Lys)

dbSNP: rs863225081
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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)
PreventionGenetics, part of Exact Sciences 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.
GeneReviews RCV001250808 SCV001426291 not provided Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome no assertion provided literature only
GenomeConnect - Simons Searchlight 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.

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