ClinVar Miner

Submissions for variant NM_212472.2(PRKAR1A):c.124C>T (p.Arg42Ter) (rs281864782)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001007963 SCV001167690 pathogenic not provided 2019-02-21 criteria provided, single submitter clinical testing he R42X nonsense variant in the PRKAR1A gene has been reported previously in association with Carney complex, occasionally as c.211 C>T using alternate nomenclature, (Kirschner et al., 2000; Takigami et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). We interpret this variant as pathogenic.
Invitae RCV000034284 SCV001588731 pathogenic Carney complex, type 1 2020-10-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg42*) in the PRKAR1A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Carney complex (PMID: 11115848). This variant is also known as 211C>T. ClinVar contains an entry for this variant (Variation ID: 41382). Loss-of-function variants in PRKAR1A are known to be pathogenic (PMID: 11115848, 19293268). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000034284 SCV000058227 pathologic Carney complex, type 1 2012-09-20 no assertion criteria provided curation Converted during submission to Pathogenic.

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