ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2967G>A (p.Ala989=)

dbSNP: rs1324429294
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001285472 SCV001471903 likely benign Polycystic kidney disease, adult type 2020-03-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001285472 SCV002810827 likely benign Polycystic kidney disease, adult type 2021-12-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005408800 SCV006071998 likely benign not specified 2025-03-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001357396 SCV001552862 likely benign not provided no assertion criteria provided clinical testing The PKD1 p.Ala989= variant was not identified in the literature nor was it identified in the following databases: dbSNP, ClinVar, GeneInsight-COGR, LOVD 3.0, ADPKD Mutation Database, and PKD1-LOVD. The variant was identified in control databases in 5 of 143440 chromosomes at a frequency of 0.00004 (Genome Aggregation Database Feb 27, 2017). Breakdown of the observations by population include European in 4 of 56244 chromosomes (freq: 0.00007) and East Asian in 1 of 11448 chromosomes (freq: 0.00009), while the variant was not observed in the African, Other, Latino, Ashkenazi Jewish, Finnish, or South Asian populations. In addition we cannot be certain that data from control databases is specific to PKD1 and not from one of the six PKD1 pseudogenes. The p.Ala989= variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. One of five in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) 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 although we would lean towards a more benign role for this variant. This variant is classified as likely benign.

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.