ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) (rs201082169)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000578239 SCV000680337 pathogenic Autosomal recessive polycystic kidney disease 2017-11-23 criteria provided, single submitter clinical testing
Invitae RCV000578239 SCV000833677 pathogenic Autosomal recessive polycystic kidney disease 2020-01-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln3392*) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs201082169, ExAC 0.002%). This variant has been reported in the compound heterozygous state in several individuals and families affected with autosomal recessive polycystic kidney disease (PMID: 11919560, 16133180, 23582048, 26673778). Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000578239 SCV000893724 pathogenic Autosomal recessive polycystic kidney disease 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000578239 SCV001163016 pathogenic Autosomal recessive polycystic kidney disease criteria provided, single submitter clinical testing

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