ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6273_6285delinsGA (p.Glu2092fs)

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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 RCV003486502 SCV004241695 pathogenic Autosomal recessive polycystic kidney disease 2023-12-26 criteria provided, single submitter clinical testing Variant summary: PKHD1 c.6273_6285delinsGA (p.Glu2092SerfsX12) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant was absent in 282502 control chromosomes (gnomAD). To our knowledge, no occurrence of c.6273_6285delinsGA 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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