ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11612G>A (p.Trp3871Ter) (rs1554167673)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546671 SCV000629902 pathogenic Autosomal recessive polycystic kidney disease 2018-03-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 3871 (p.Trp3871*) of the PKHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKHD1 are known to be pathogenic. This particular variant has been reported in the literature in an individual affected with polycystic kidney disease (PMID: 11919560). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000546671 SCV000792722 pathogenic Autosomal recessive polycystic kidney disease 2017-07-11 no assertion criteria provided clinical testing

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