ClinVar Miner

Submissions for variant NM_002734.4(PRKAR1A):c.177+1G>A (rs1555811753)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000645600 SCV000767350 pathogenic Carney complex, type 1 2018-08-19 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the PRKAR1A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with Carney complex (PMID: 18056771, 22259056, 22341669). ClinVar contains an entry for this variant (Variation ID: 536896). Experimental studies report that this variant can result in aberrant mRNA splicing that is subject to nonsense-mediated decay (PMID: 19293268, 20358582). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PRKAR1A are known to be pathogenic (PMID: 11115848, 19293268). For these reasons, this variant has been classified as Pathogenic.

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