ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.1611C>T (p.Phe537=)

gnomAD frequency: 0.00012  dbSNP: rs150183033
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001460868 SCV001664750 likely benign not provided 2024-08-28 criteria provided, single submitter clinical testing
Sydney Genome Diagnostics, Children's Hospital Westmead RCV001328110 SCV001449459 uncertain significance Nephrotic syndrome 2018-10-24 no assertion criteria provided clinical testing This patient is heterozygous for a variant of unknown clinical significance (VOUS), c.1611C>T (p.Phe537Phe), in the TRPC6 gene. To our knowledge, this variant has not been previously reported in the literature to be associated with disease. It has has been listed in Exome Aggregation Consortium (ExAC) with a very low allelic frequency (12/121358 alleles). It is also unclear if this synonymous variant will affect splicing or is a non-pathogenic.

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.