ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4881T>A (p.Tyr1627Ter)

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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 RCV004740818 SCV005360501 pathogenic PKD1-related disorder 2024-03-13 no assertion criteria provided clinical testing The PKD1 c.4881T>A variant is predicted to result in premature protein termination (p.Tyr1627*). This variant has been reported in an individual with autosomal dominant polycystic kidney disease 1 (Supplemental table 3, Cornec-Le Gall et al 2016. PubMed ID: 26150605). This variant is reported in 0.00089% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in PKD1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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