ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5538C>A (p.Cys1846Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003988485 SCV004803304 pathogenic Autosomal recessive polycystic kidney disease 2024-01-12 criteria provided, single submitter clinical testing Variant summary: PKHD1 c.5538C>A (p.Cys1846X) 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 251272 control chromosomes. To our knowledge, no occurrence of c.5538C>A 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. Based on the evidence outlined above, the variant was classified as pathogenic.

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