ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5336A>G (p.Asn1779Ser)

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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 RCV003236329 SCV003934193 likely pathogenic Autosomal recessive polycystic kidney disease 2023-05-05 criteria provided, single submitter clinical testing Variant summary: PKHD1 c.5336A>G (p.Asn1779Ser) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251246 control chromosomes (gnomAD). c.5336A>G has been reported in the literature as a biallelic genotype in individuals affected with Polycystic Kidney And Hepatic Disease (Melchionda_2016). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 27225849). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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