ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4574del (p.Pro1525fs)

dbSNP: rs1057516691
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411161 SCV000486071 likely pathogenic Autosomal recessive polycystic kidney disease 2016-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000411161 SCV004490105 pathogenic Autosomal recessive polycystic kidney disease 2023-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro1525Leufs*4) 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: 370691). For these reasons, this variant has been classified as Pathogenic.

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