ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys)

gnomAD frequency: 0.00009  dbSNP: rs374629549
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
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000501969 SCV000592826 uncertain significance not specified 2016-08-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481605 SCV002780565 uncertain significance Polycystic kidney disease, adult type 2022-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002524139 SCV003552107 uncertain significance Inborn genetic diseases 2022-12-28 criteria provided, single submitter clinical testing The c.8590G>A (p.E2864K) alteration is located in exon 23 (coding exon 23) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 8590, causing the glutamic acid (E) at amino acid position 2864 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Preventiongenetics, part of Exact Sciences RCV003419853 SCV004114472 uncertain significance PKD1-related condition 2023-10-13 criteria provided, single submitter clinical testing The PKD1 c.8590G>A variant is predicted to result in the amino acid substitution p.Glu2864Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.031% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2153468-C-T), which may be too common to be a primary cause of disease. Although we suspect this variant may be benign, at this time, the clinical significance is uncertain due to the absence of conclusive functional and genetic evidence.

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.