ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4665A>C (p.Ala1555=)

gnomAD frequency: 0.24531  dbSNP: rs71385734
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000244819 SCV000305743 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755343 SCV000604673 benign Polycystic kidney disease, adult type 2020-07-07 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV001254273 SCV001430190 benign Autosomal dominant polycystic kidney disease 2019-01-01 criteria provided, single submitter research
GeneDx RCV001709526 SCV001937573 benign not provided 2019-12-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22008521)
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001291899 SCV000592776 benign Polycystic kidney disease no assertion criteria provided clinical testing The c.4665A>C, p.Ala1555Ala variant was identified in 16.87% of 20079 control alleles in the Exome Aggregation Consortium (March 14, 2016). According to ACMG guidelines for variant classification based on allele frequency, category BA1, this variant is considered benign and has not been further reviewed (Richards 2015).

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.