ClinVar Miner

Submissions for variant NM_002734.5(PRKAR1A):c.360del (p.Asp121fs)

dbSNP: rs886041530
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000369351 SCV000330203 pathogenic not provided 2016-02-27 criteria provided, single submitter clinical testing The c.360delA pathogenic variant in the PRKAR1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.360delA variant causes a frameshift starting with codon Aspartic Acid 121, changes this amino acid to an Isoleucine residue, and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Asp121IlefsX8. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.360delA variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.360delA as a pathogenic variant.

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