ClinVar Miner

Submissions for variant NM_212472.2(PRKAR1A):c.1102C>T (p.Arg368Ter) (rs387906692)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760318 SCV000890174 pathogenic not provided 2018-07-10 criteria provided, single submitter clinical testing The R368X variant in the PRKAR1A gene has been reported previously as a de novo finding in multiple unrelated individuals with a variety of clinical features, including acrodysostosis, brachydactyly, short stature, and hormone resistance (Linglart et al., 2011; Michot et al., 2012; Pereda et al., 2018). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Functional studies demonstrated that R368X impairs the ability of cAMP to dissociate the regulatory and catalytic subunits of PKA, consistent with a gain of function effect (Linglart et al., 2011; Rhayem et al., 2015). The R368X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R368X as a pathogenic variant.
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000022791 SCV001156417 pathogenic Acrodysostosis 1 with or without hormone resistance 2019-02-01 criteria provided, single submitter clinical testing
OMIM RCV000022791 SCV000044080 pathogenic Acrodysostosis 1 with or without hormone resistance 2012-04-06 no assertion criteria provided literature only

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