ClinVar Miner

Submissions for variant NM_002734.4(PRKAR1A):c.46C>T (p.Arg16Ter) (rs886041228)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000265264 SCV000329473 pathogenic not provided 2016-02-20 criteria provided, single submitter clinical testing The R16X pathogenic variant in the PRKAR1A gene has been reported previously in association with Carney complex (Bertherat et al., 2009; Tung et al., 2012). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R16X variant was not observed in approximately 6,500 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 R16X as a pathogenic variant.
Invitae RCV000558438 SCV000646290 pathogenic Carney complex, type 1 2017-06-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 16 (p.Arg16*) of the PRKAR1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PRKAR1A are known to be pathogenic. This particular variant has been reported in the literature in individuals affected with Carney complex (CNC) (PMID: 19293268, 22785148). For these reasons, this variant has been classified as Pathogenic.

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