ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly)

gnomAD frequency: 0.00009  dbSNP: rs137852950
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788517 SCV000927664 pathogenic not provided 2018-04-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV003460426 SCV004204747 likely pathogenic Polycystic kidney disease 4 2022-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000004331 SCV004292311 pathogenic Autosomal recessive polycystic kidney disease 2023-03-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PKHD1 protein function. ClinVar contains an entry for this variant (Variation ID: 4115). This missense change has been observed in individual(s) with polycystic kidney disease (PMID: 12506140). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs137852950, gnomAD 0.07%). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 3471 of the PKHD1 protein (p.Val3471Gly).
OMIM RCV000004331 SCV000024502 pathogenic Autosomal recessive polycystic kidney disease 2003-01-01 no assertion criteria provided literature only

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.