ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter) (rs727504096)

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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 RCV000179011 SCV000231200 pathogenic not provided 2014-03-21 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626995 SCV000747698 pathogenic Abnormality of the intrahepatic bile duct 2017-01-01 criteria provided, single submitter clinical testing
Invitae RCV000796722 SCV000936247 pathogenic Autosomal recessive polycystic kidney disease 2018-10-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg124*) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs727504096, ExAC 0.01%). This variant has been observed in individuals affected with polycystic kidney disease (PMID: 15805161, 27225849). ClinVar contains an entry for this variant (Variation ID: 167499). Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000796722 SCV001163082 pathogenic Autosomal recessive polycystic kidney disease criteria provided, single submitter clinical testing

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