ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.74dup (p.Gly27fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005007576 SCV005640703 pathogenic Polycystic kidney disease, adult type 2024-04-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV005007576 SCV006059939 pathogenic Polycystic kidney disease, adult type 2024-02-08 criteria provided, single submitter clinical testing The PKD1 c.74dup p.(Gly27ArgfsTer87) variant causes a shift in the protein reading frame that is predicted to result in premature termination of the protein. Loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay is expected. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not observed in version 2.1.1 or version 4.0.0 of the Genome Aggregation Database. This variant has been shown to segregate with disease in this family. Based on the available evidence, this variant is classified as pathogenic for autosomal dominant polycystic kidney disease.

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