ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter) (rs148300854)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781724 SCV000919993 likely pathogenic Autosomal recessive polycystic kidney disease 2018-02-26 criteria provided, single submitter clinical testing Variant summary: PKHD1 c.10744G>T (p.Glu3582X) 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. A truncation downstream of this position has been classified as pathogenic by our laboratory (c.11314C>T (p.Arg3772X)). The variant allele was found at a frequency of 4.1e-06 in 245594 control chromosomes. To our knowledge, no occurrence of c.10744G>T in individuals affected with Polycystic Kidney and Hepatic Disease and no experimental evidence demonstrating its impact on protein function have been reported. 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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