ClinVar Miner

Submissions for variant NM_002734.5(PRKAR1A):c.69_70dup (p.Lys24fs)

dbSNP: rs1064793709
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481932 SCV000566836 pathogenic not provided 2015-06-02 criteria provided, single submitter clinical testing The c.69_70dupGA duplication has been reported previously in association with Carneycomplex (Bertherat et al., 2009). The c.69_70dupGA duplication in the PRKAR1A gene causes a frameshift starting with codon Lysine 24, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 106 of the new reading frame, denoted p.Lys24ArgfsX106. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret this variant as pathogenic.

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