ClinVar Miner

Submissions for variant NM_002715.4(PPP2CA):c.640C>T (p.Arg214Ter)

dbSNP: rs148071386
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413079 SCV000491689 uncertain significance not specified 2016-11-22 criteria provided, single submitter clinical testing The R214X variant in the PPP2CA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R214X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R214X as a variant of uncertain significance.
SIB Swiss Institute of Bioinformatics RCV000853493 SCV000996430 likely pathogenic Neurodevelopmental disorder and language delay with or without structural brain abnormalities 2019-07-15 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Neurodevelopmental disorder and language delay with or without structural brain abnormalities, autosomal dominant. The following ACMG Tag(s) were applied: PM2, PM6, PP3, PS3.

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