ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) (rs398124475)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790800 SCV000231851 pathogenic not provided 2013-01-18 criteria provided, single submitter clinical testing
Counsyl RCV000179585 SCV000486603 likely pathogenic Autosomal recessive polycystic kidney disease 2016-07-06 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000179585 SCV000894381 pathogenic Autosomal recessive polycystic kidney disease 2018-10-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000179585 SCV000918011 likely pathogenic Autosomal recessive polycystic kidney disease 2018-10-29 criteria provided, single submitter clinical testing Variant summary: PKHD1 c.10031T>G (p.Leu3344X) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. p.Leu3485fsX18, p.Val3546fsX22, p.Arg3772X). The variant was absent in 245968 control chromosomes (gnomAD). c.10031T>G has been reported in the literature in an individual affected with Polycystic Kidney and Hepatic Disease (Losekoot_2005). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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