ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10452T>G (p.Phe3484Leu)

gnomAD frequency: 0.00004  dbSNP: rs545701882
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
Eurofins Ntd Llc (ga) RCV000733863 SCV000861965 uncertain significance not provided 2018-06-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477728 SCV002776353 uncertain significance Polycystic kidney disease 4 2022-04-21 criteria provided, single submitter clinical testing
Invitae RCV002535354 SCV003270878 uncertain significance Autosomal recessive polycystic kidney disease 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 3484 of the PKHD1 protein (p.Phe3484Leu). The phenylalanine residue is weakly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs545701882, ExAC 0.02%). This variant has not been reported in the literature in individuals with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 597675). 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 not expected to disrupt PKHD1 protein function. 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.
Ambry Genetics RCV004027075 SCV005006763 uncertain significance Inborn genetic diseases 2024-03-01 criteria provided, single submitter clinical testing The c.10452T>G (p.F3484L) alteration is located in exon 61 (coding exon 60) of the PKHD1 gene. This alteration results from a T to G substitution at nucleotide position 10452, causing the phenylalanine (F) at amino acid position 3484 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.