ClinVar Miner

Submissions for variant NM_006245.4(PPP2R5D):c.758G>C (p.Arg253Pro)

dbSNP: rs1131691266
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001552427 SCV001773111 pathogenic not provided 2024-08-07 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect, including significantly impaired substrate binding (PMID: 36216457); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 36216457)
GenomeConnect - Simons Searchlight RCV001265316 SCV001443433 pathogenic Hogue-Janssens syndrome 1 2019-02-01 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2019-02-01 and interpreted as Pathogenic. Variant was initially reported on 2018-01-05 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.
GenomeConnect, ClinGen RCV001552427 SCV002818385 not provided not provided no assertion provided phenotyping only Variant classified as Likely pathogenic and reported on 11-09-2017 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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