ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) (rs148617572)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169255 SCV000220543 likely pathogenic Autosomal recessive polycystic kidney disease 2014-07-23 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726420 SCV000344513 pathogenic not provided 2016-08-05 criteria provided, single submitter clinical testing
Invitae RCV000169255 SCV000754646 pathogenic Autosomal recessive polycystic kidney disease 2017-09-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 3482 of the PKHD1 protein (p.Arg3482Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs148617572, ExAC 0.02%). This variant has been reported in individuals affected with autosomal recessive polycystic kidney disease and related conditions (PMID: 12506140, 15108281, 15805161, 26385851, 26721323). ClinVar contains an entry for this variant (Variation ID: 188896). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000169255 SCV000965800 likely pathogenic Autosomal recessive polycystic kidney disease 2014-01-01 criteria provided, single submitter clinical testing

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