ClinVar Miner

Submissions for variant NM_002734.4(PRKAR1A):c.289C>T (p.Arg97Ter) (rs1555813217)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627206 SCV000748193 pathogenic not provided 2018-04-16 criteria provided, single submitter clinical testing The R97X nonsense variant has been reported previously as c.376 C>T in association with Carney Complex (Veugelers et al., 2004). 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). In summary, this variant is pathogenic and consistent with the diagnosis of Carney Complex in this individual.
Invitae RCV000811724 SCV000952005 pathogenic Carney complex, type 1 2018-07-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg97*) 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 an individual affected with Carney complex (PMID: 15371594, 20358582). This variant is also known as C376T in the literature. ClinVar contains an entry for this variant (Variation ID: 523771). Loss-of-function variants in PRKAR1A are known to be pathogenic (PMID: 11115848, 19293268). For these reasons, this variant has been classified as Pathogenic.

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