ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter)

dbSNP: rs1581808463
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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 RCV000788601 SCV000927768 likely pathogenic not provided 2018-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001220463 SCV001392452 pathogenic Autosomal recessive polycystic kidney disease 2019-05-22 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1444*) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in an individual affected with polycystic kidney disease (PMID: 16133180). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839).
GeneDx RCV000788601 SCV003936652 pathogenic not provided 2022-12-29 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 16133180)

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