ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9202-1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004724479 SCV005336021 pathogenic PKD1-related disorder 2024-05-29 no assertion criteria provided clinical testing The PKD1 c.9202-1G>T variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant 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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