ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp)

gnomAD frequency: 0.00002  dbSNP: rs776866974
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
Athena Diagnostics Inc RCV000712671 SCV000843190 uncertain significance not provided 2018-06-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493266 SCV002799688 uncertain significance Polycystic kidney disease, adult type 2022-04-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403645 SCV004104113 uncertain significance PKD1-related condition 2023-04-28 criteria provided, single submitter clinical testing The PKD1 c.9454C>T variant is predicted to result in the amino acid substitution p.Arg3152Trp. This variant was reported in an individual with ciliopathy; the individual also carried a truncating variant in PKD1 (Table 3: patient #52, Vaisitti et al. 2020. PubMed ID: 33226606). This variant is reported in 0.0040% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2150511-G-A). Of note, we have previously found this variant in the heterozygous state with a definitely pathogenic PKD1 variant in two newborns and one fetus with PKD at PreventionGenetics (internal data). Therefore, this variant is highly suspected to be a hypomorphic allele. By itself, it may cause no disease or only relatively mild disease. However, in combination with other pathogenic variants in relevant genes, this type of hypomorphic allele may contribute to disease severity. Therefore, the pathogenicity of the c.9454C>T (p.Arg3152Trp) variant should be considered in the context of an individual’s other genetic findings. At this time, we classify it as a variant of uncertain significance.

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.