ClinVar Miner

Submissions for variant NM_001252024.2(TRPM1):c.3571del (p.Glu1191fs)

dbSNP: rs778390089
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176649 SCV000228338 pathogenic not provided 2014-08-11 criteria provided, single submitter clinical testing
3billion, Medical Genetics RCV001542687 SCV002058955 likely pathogenic Congenital stationary night blindness 1C 2022-01-03 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region (PVS1_S). The variant has been reported to be associated with TRPM1 related disorder (ClinVar ID: VCV000195958). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000024, PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Genomics England Pilot Project, Genomics England RCV001542687 SCV001760343 pathogenic Congenital stationary night blindness 1C no assertion criteria provided clinical testing

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.