ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) (rs1344820986)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548550 SCV000629911 pathogenic Autosomal recessive polycystic kidney disease 2017-05-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 937 (p.Trp937*) of the PKHD1 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). Indeed, a different variant (c.2810G>A) giving rise to the same protein effect observed here (p.Trp937*) has been reported in individuals affected with autosomal recessive polycystic kidney disease. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000548550 SCV000894383 pathogenic Autosomal recessive polycystic kidney disease 2018-10-31 criteria provided, single submitter clinical testing
Counsyl RCV000548550 SCV001132459 likely pathogenic Autosomal recessive polycystic kidney disease 2014-01-02 no assertion criteria provided clinical testing

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