ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5665del (p.Glu1889fs) (rs1581727260)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793810 SCV000933184 pathogenic Autosomal recessive polycystic kidney disease 2018-07-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1889Argfs*85) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PKHD1-related disease. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). For these reasons, this variant has been classified as Pathogenic.

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