ClinVar Miner

Submissions for variant NM_002734.4(PRKAR1A):c.502+1G>A (rs1555813578)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556523 SCV000646293 pathogenic Carney complex, type 1 2017-05-15 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the PRKAR1A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in PRKAR1A are known to be pathogenic. This particular variant has been reported to segregate with Carney complex in one family (PMID: 18445140). One experimental study using patient-derived lymphoblastoid cell lines has shown that this sequence change causes exon 5 skipping, creating a premature stop codon (PMID: 18445140). For these reasons, this variant has been classified as Pathogenic.

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