ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) (rs144193508)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665966 SCV000790187 uncertain significance Autosomal recessive polycystic kidney disease 2017-03-07 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory,M Health: University of Minnesota RCV000665966 SCV000891316 likely pathogenic Autosomal recessive polycystic kidney disease 2017-09-06 criteria provided, single submitter clinical testing
Invitae RCV000665966 SCV000950755 uncertain significance Autosomal recessive polycystic kidney disease 2018-08-23 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PKHD1 gene (p.Arg3961*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 114 amino acids of the PKHD1 protein. This variant is present in population databases (rs144193508, ExAC 0.01%). This variant has not been reported in the literature in individuals with PKHD1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV000665966 SCV001163007 pathogenic Autosomal recessive polycystic kidney disease criteria provided, single submitter clinical testing

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