ClinVar Miner

Submissions for variant NM_212472.2(PRKAR1A):c.1A>G (p.Met1Val) (rs281864779)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523178 SCV000616832 pathogenic not provided 2017-07-14 criteria provided, single submitter clinical testing The c.1A>G variant in the PRKAR1A gene has previously been reported to segregate with disease in at least two families with features of Carney complex (Kirschner et al., 2000; Pereira et al., 2010). This variant is thought to lead to an alternate start codon downstream of the original start codon, and decrease binding of the PRKAR1A protein (Kirschner et al., 2000; Salpa et al., 2014). The c.1A>G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). As this variant changes the translator initiator Methionine codon, the resultant protein is described as p.Met1?, using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Methionine. Based on currently available evidence, we consider c.1A>G to be pathogenic.
OMIM RCV000013505 SCV000033752 pathogenic Carney complex, type 1 2000-12-12 no assertion criteria provided literature only
GeneReviews RCV000013505 SCV000058231 pathologic Carney complex, type 1 2012-09-20 no assertion criteria provided curation Converted during submission to Pathogenic.

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