ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10325C>T (p.Ala3442Val) (rs144593342)

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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756521 SCV000884355 likely benign not provided 2018-03-07 criteria provided, single submitter clinical testing The PKD1 c.10325C>T; p.Ala3442Val variant (rs144593342), to our knowledge, is not reported in the medical literature but is reported as likely benign in ClinVar (Variation ID: 387124). This variant is found in the African population at an overall frequency of 0.5% (105/23514 alleles) in the Genome Aggregation Database. The alanine at codon 3442 is weakly conserved and computational algorithms (SIFT, PolyPhen2) predict this variant to be tolerated. Based on the above information, this variant is considered likely benign.
GeneDx RCV000428826 SCV000529019 likely benign not specified 2016-06-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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.