ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6294_6295TG[1] (p.Val2099fs) (rs910497248)

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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 RCV000586446 SCV000699871 likely pathogenic Autosomal recessive polycystic kidney disease 2017-02-23 criteria provided, single submitter clinical testing Variant summary: The PKHD1 c.6296_6297delTG (p.Val2099Alafs) variant results in a premature termination codon, predicted to cause a truncated or absent PKHD1 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 (e.g., c.9319C>T [p.Arg3107X] and c.9689delA [p.Asp3230fs). One in silico tool predicts a damaging outcome for this variant. This variant is absent in the large control population database ExAC (0/121238 control chromosomes). One publication has implicated this variant, in trans with another truncating variant, as disease causative (Denamur_Kidney Int_2010). Taken together, this variant is classified as likely pathogenic.

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