ClinVar Miner

Submissions for variant NM_212472.2(PRKAR1A):c.891+3A>G (rs281864799)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000013500 SCV001576383 likely pathogenic Carney complex, type 1 2020-03-24 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the PRKAR1A gene. It does not directly change the encoded amino acid sequence of the PRKAR1A protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Carney complex (PMID: 10973256, 21900385, Invitae). ClinVar contains an entry for this variant (Variation ID: 12664). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 10973256). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000013500 SCV000033747 pathogenic Carney complex, type 1 2000-09-01 no assertion criteria provided literature only
GeneReviews RCV000013500 SCV000058248 pathologic Carney complex, type 1 2012-09-20 no assertion criteria provided curation Converted during submission to Pathogenic.

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