ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8949-2A>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV005208347 SCV005849350 likely pathogenic Polycystic kidney disease, adult type criteria provided, single submitter clinical testing The invariant splice acceptor c.8949-2A>C variant in PKD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.8949-2A>C variant is present with allele frequency of 0.0008% in gnomAD Exomes. This variant has not been submitted to the ClinVar database. The SpliceAI predicts a score of 0.99 for this variant. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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