ClinVar Miner

Submissions for variant NM_212472.2(PRKAR1A):c.286C>T (p.Arg96Ter) (rs281864783)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000034288 SCV000287678 pathogenic Carney complex, type 1 2019-04-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg96*) 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 varaint has been reported in the literature in an individual affected with Carney complex (PMID: 17396442). ClinVar contains an entry for this variant (Variation ID: 41386). 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 RCV000034288 SCV000058232 pathologic Carney complex, type 1 2012-09-20 no assertion criteria provided curation Converted during submission to Pathogenic.

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