ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1154T>C (p.Leu385Pro)

dbSNP: rs2092665731
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
Molecular Biology Laboratory, Fundació Puigvert RCV001281146 SCV001425151 likely pathogenic Polycystic kidney disease, adult type 2020-02-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV001281146 SCV005640578 uncertain significance Polycystic kidney disease, adult type 2024-06-03 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001292495 SCV001480611 uncertain significance Polycystic kidney disease no assertion criteria provided clinical testing PKD1, EXON05, c.1154T>C, p.Leu385Pro, Heterozygous, Uncertain SignificancernThe PKD1 p.Leu385Pro variant was not identified in the literature nor was it identified in the following databases: dbSNP, ClinVar, LOVD 3.0, ADPKD Mutation Database, or PKD1-LOVD. The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The p.Leu385 residue is conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and 1 of 4 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. Assessment Date: 2019/06/26.

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.