ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter)

dbSNP: rs1801882752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233821 SCV001406434 pathogenic Autosomal recessive polycystic kidney disease 2023-12-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1690*) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 960317). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002497800 SCV002776541 likely pathogenic Polycystic kidney disease 4 2022-01-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV002497800 SCV004204616 likely pathogenic Polycystic kidney disease 4 2023-07-02 criteria provided, single submitter clinical testing

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