ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4005del (p.Cys1336fs)

dbSNP: rs1802073525
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067721 SCV001232793 pathogenic Autosomal recessive polycystic kidney disease 2023-06-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 861244). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys1336Valfs*12) 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). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002482115 SCV002779604 likely pathogenic Polycystic kidney disease 4 2021-12-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV002482115 SCV004204659 likely pathogenic Polycystic kidney disease 4 2023-05-14 criteria provided, single submitter clinical testing

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