ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5342C>T (p.Thr1781Ile)

dbSNP: rs1554197025
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667386 SCV000791821 uncertain significance Autosomal recessive polycystic kidney disease 2017-05-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733076 SCV000861095 uncertain significance not provided 2018-04-27 criteria provided, single submitter clinical testing
GeneDx RCV000733076 SCV003194934 likely pathogenic not provided 2023-05-17 criteria provided, single submitter clinical testing Reported without a second variant in a patient with polycystic kidney disease in published literature (Furu et al., 2003); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 14741187, 12874454)

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