ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) (rs200511261)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000444254 SCV000511084 pathogenic not provided 2017-01-06 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000502876 SCV000592907 pathogenic Autosomal recessive polycystic kidney disease 2016-07-22 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000502876 SCV000894382 likely pathogenic Autosomal recessive polycystic kidney disease 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000502876 SCV000937398 uncertain significance Autosomal recessive polycystic kidney disease 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 3177 of the PKHD1 protein (p.Ile3177Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs200511261, ExAC 0.007%). This variant has been observed on the same chromosome with another PKHD1 variant (p.Pro805Leu) in individuals affected with polycystic kidney disease (PMID: 16133180, 15108281, 18503009, 19940839). The haplotype (Pro805Leu; Ile3177Thr) has been observed on the opposite chromosome from other pathogenic variants in an individuals affected with polycystic kidney disease (PMID: 12846734, 15108281, Invitae). ClinVar contains an entry for this variant (Variation ID: 377018). 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.
Baylor Genetics RCV000502876 SCV001163019 pathogenic Autosomal recessive polycystic kidney disease criteria provided, single submitter clinical testing
Gharavi Laboratory,Columbia University RCV000444254 SCV000920666 uncertain significance not provided 2018-09-16 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.