ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.434C>G (p.Pro145Arg)

gnomAD frequency: 0.00004  dbSNP: rs146649894
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000281079 SCV000345506 uncertain significance not provided 2016-09-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820840 SCV002065666 uncertain significance not specified 2018-09-17 criteria provided, single submitter clinical testing
Invitae RCV001850476 SCV002179239 uncertain significance Autosomal recessive polycystic kidney disease 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 145 of the PKHD1 protein (p.Pro145Arg). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs146649894, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 290856). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002487288 SCV002784872 uncertain significance Polycystic kidney disease 4 2022-04-23 criteria provided, single submitter clinical testing

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