ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del) (rs1555454460)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599582 SCV000709892 likely pathogenic not provided 2017-11-06 criteria provided, single submitter clinical testing The c.6397_6399delTTC variant in the PKD1 gene has been reported previously in an individual with polycystic kidney disease (Neumann et al., 2012). The c.6397_6399delTTC variant causes an in frame deletion of one amino acid, Phenylalanine 2133, denoted p.Phe2133del. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. The c.6397_6399delTTC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.6397_6399delTTC as a likely pathogenic variant.
Blueprint Genetics RCV000599582 SCV000927705 likely pathogenic not provided 2018-05-22 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research RCV001254255 SCV001430295 likely pathogenic Autosomal dominant polycystic kidney disease 2019-01-01 criteria provided, single submitter research

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