ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11649_11662del (p.Ser3884fs)

dbSNP: rs1596480112
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001349 SCV001158544 pathogenic Polycystic kidney disease, adult type 2019-06-17 criteria provided, single submitter clinical testing The PKD1 c.11649_11662del; p.Ser3884fs variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the general population database (Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting 14 nucleotides, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic.

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