ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8829dup (p.Ile2944fs)

dbSNP: rs2151011995
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001732608 SCV001982874 pathogenic not provided 2024-05-23 criteria provided, single submitter clinical testing Frameshift 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: 11898128)
Labcorp Genetics (formerly Invitae), Labcorp RCV002032720 SCV002244719 pathogenic Autosomal recessive polycystic kidney disease 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile2944Hisfs*6) 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 polycystic kidney disease (PMID: 11898128). 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: 1300719). For these reasons, this variant has been classified as Pathogenic.

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