ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6400G>A (p.Val2134Met)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005014251 SCV005641313 uncertain significance Polycystic kidney disease, adult type 2024-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV005387335 SCV006045327 uncertain significance Inborn genetic diseases 2025-01-21 criteria provided, single submitter clinical testing The c.6400G>A (p.V2134M) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 6400, causing the valine (V) at amino acid position 2134 to be replaced by a methionine (M). 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.