ClinVar Miner

Submissions for variant NM_002734.4(PRKAR1A):c.489T>G (p.Thr163=) (rs143672551)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226717 SCV000287680 uncertain significance Carney complex, type 1 2016-03-08 criteria provided, single submitter clinical testing This sequence change affects codon 163 of the PRKAR1A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PRKAR1A protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a PRKAR1A-related disease. Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a novel silent change with uncertain impact on mRNA splicing. It has been classified as a Variant of Uncertain Significance.

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