ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11713-2A>G

dbSNP: rs1555445274
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517064 SCV000614472 pathogenic not provided 2016-08-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003409737 SCV004108209 pathogenic PKD1-related condition 2023-06-21 criteria provided, single submitter clinical testing The PKD1 c.11713-2A>G variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. This variant has been reported to segregate with polycystic kidney disease in an affected father and child (Audrézet et al 2016. PubMed ID: 26139440). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating it is rare. Variants that disrupt the consensus splice acceptor site in PKD1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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