ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) (rs398124497)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082584 SCV000114626 uncertain significance not provided 2015-10-27 criteria provided, single submitter clinical testing
Invitae RCV000531951 SCV000629935 uncertain significance Autosomal recessive polycystic kidney disease 2019-04-10 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 2809 of the PKHD1 protein (p.Gly2809Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs398124497, ExAC 0.01%). This variant has been reported in the literature in an individual affected with autosomal recessive polycystic kidney disease (PMID: 15805161). ClinVar contains an entry for this variant (Variation ID: 96434). 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"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been reported in both the population and an affected individual, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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