ClinVar Miner

Submissions for variant NM_212472.2(PRKAR1A):c.709-7_709-2del (rs281864801)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001387938 SCV001588698 pathogenic Carney complex, type 1 2020-08-27 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the PRKAR1A gene. It does not directly change the encoded amino acid sequence of the PRKAR1A protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Carney complex, mostly presenting with primary pigmented nodular adrenocortical disease (PPNAD) (PMID: 24859511, 29909407, 16464939, 21900385). It has also been observed to segregate with disease in related individuals, and observed in unaffected/asymptomatic family members as being associated with incomplete penetrance. This variant is also known as Exon 7 IVS del (-7_-2) and c.709(-7-2)del6. ClinVar contains an entry for this variant (Variation ID: 12675). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 16464939). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000013511 SCV000033758 pathogenic Pigmented nodular adrenocortical disease, primary, 1 2006-05-01 no assertion criteria provided literature only
OMIM RCV000013512 SCV000033759 pathogenic Carney complex 2006-05-01 no assertion criteria provided literature only
GeneReviews RCV000013511 SCV000058242 pathologic Pigmented nodular adrenocortical disease, primary, 1 2012-09-20 no assertion criteria provided curation Converted during submission to Pathogenic.

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