ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9201+5G>A

dbSNP: rs1596521826
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788988 SCV000928297 uncertain significance not provided 2019-03-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001286615 SCV001473219 uncertain significance Polycystic kidney disease, adult type 2019-08-02 criteria provided, single submitter clinical testing The PKD1 c.9201+5G>A variant, to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 637003). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This is an intronic variant in a highly conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical donor splice site. However, given the lack of clinical and functional data, the significance of the c.9201+5G>A variant is uncertain at this time.
Fulgent Genetics, Fulgent Genetics RCV001286615 SCV005640790 likely pathogenic Polycystic kidney disease, adult type 2024-06-07 criteria provided, single submitter clinical testing

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