ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) (rs773136605)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724042 SCV000228491 pathogenic not provided 2014-06-05 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000724042 SCV000927782 pathogenic not provided 2018-07-05 criteria provided, single submitter clinical testing
Invitae RCV000176777 SCV001199787 pathogenic Autosomal recessive polycystic kidney disease 2019-12-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 952 of the PKHD1 protein (p.Gly952Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs773136605, ExAC 0.02%). This variant has been observed in individual(s) with polycystic kidney disease (PMID: 27225849, 16133180). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 196052). 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: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198369 SCV001369281 likely pathogenic Delayed speech and language development; Generalized hypotonia; Depigmentation/hyperpigmentation of skin 2019-12-11 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. This variant was detected in heterozygous state.
Division of Human Genetics,Children's Hospital of Philadelphia RCV000176777 SCV000536850 likely pathogenic Autosomal recessive polycystic kidney disease 2016-09-05 no assertion criteria provided research

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.