ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7005_7006del (p.Arg2335fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003471691 SCV004204798 likely pathogenic Polycystic kidney disease 4 2022-04-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003485950 SCV004241418 pathogenic Autosomal recessive polycystic kidney disease 2023-12-13 criteria provided, single submitter clinical testing Variant summary: PKHD1 c.7005_7006delAG (p.Arg2335SerfsX43) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251378 control chromosomes. To our knowledge, no occurrence of c.7005_7006delAG in individuals affected with Polycystic Kidney And Hepatic Disease and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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