ClinVar Miner

Submissions for variant NM_002734.4(PRKAR1A):c.682C>T (p.Arg228Ter) (rs281864784)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627207 SCV000748194 pathogenic not provided 2018-02-07 criteria provided, single submitter clinical testing The R228X nonsense pathogenic variant in the PRKAR1A gene has been reported previously in association with Carney Complex (Kirschner et al., 2000; Horvath et al., 2010). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
GeneReviews RCV000034293 SCV000058239 pathologic Carney complex, type 1 2012-09-20 no assertion criteria provided curation Converted during submission to Pathogenic.

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