ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8414A>G (p.His2805Arg)

gnomAD frequency: 0.00004  dbSNP: rs202086892
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483119 SCV000573131 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing The H2805R variant in the PKD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The H2805R variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The H2805R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret H2805R as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002489174 SCV002793138 uncertain significance Polycystic kidney disease, adult type 2022-03-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV005384732 SCV006045314 uncertain significance Inborn genetic diseases 2025-03-08 criteria provided, single submitter clinical testing The c.8414A>G (p.H2805R) alteration is located in exon 23 (coding exon 23) of the PKD1 gene. This alteration results from a A to G substitution at nucleotide position 8414, causing the histidine (H) at amino acid position 2805 to be replaced by an arginine (R). 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.