ClinVar Miner

Submissions for variant NM_002734.5(PRKAR1A):c.565_566insC (p.Glu189fs)

dbSNP: rs2143321666
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001537873 SCV001754775 likely pathogenic Arrhythmogenic right ventricular dysplasia 10 2019-10-31 criteria provided, single submitter clinical testing The c.565_566insC (p.Glu189AlafsTer44) variant in the PRKAR1A gene is predicted to introduce a premature translation termination codon. It is predicted to cause loss of normal protein function either through abnormal, prematurely truncated protein, or by absence of protein product due to nonsense-mediated mRNA decay. This variant was not observed in the general population (gnomAD database). Loss-of-function variants in PRKAR1A have been identified in multiple individual with Carney complex (PMID: 11115848, 10974026). For these reasons, this variant has been classified as Likely Pathogenic.

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