ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.474G>A (p.Trp158Ter)

gnomAD frequency: 0.00001  dbSNP: rs1350620976
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004218 SCV001163080 pathogenic Autosomal recessive polycystic kidney disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001004218 SCV001224127 pathogenic Autosomal recessive polycystic kidney disease 2023-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp158*) 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 premature translational stop signal has been observed in individual(s) with autosomal recessive polycystic kidney disease (PMID: 15108281, 19914852, 29956005). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 813395). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003325530 SCV004031830 pathogenic not provided 2023-08-31 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, 15108281, 29956005, 19914852)
Baylor Genetics RCV003461309 SCV004204573 pathogenic Polycystic kidney disease 4 2023-12-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001004218 SCV002083405 pathogenic Autosomal recessive polycystic kidney disease 2017-08-31 no assertion criteria provided clinical testing

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