ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1201+1G>A (rs1596588978)

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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 RCV001000874 SCV001157955 likely pathogenic Polycystic kidney disease, adult type 2018-10-18 criteria provided, single submitter clinical testing The PKD1 c.1201+1G>A variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant abolishes the canonical splice donor site of intron 5, which may result in an in-frame deletion of exon 5. This in-frame deletion is likely to disrupt the PKD1 gene function as exon 5 seems to be functionally important with pathogenic missense variants reported to present in this exon. Based on available information, the c.1201+1G>A variant is considered to be likely pathogenic.

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