ClinVar Miner

Submissions for variant NM_001349884.2(DRAM2):c.494G>A (p.Trp165Ter)

gnomAD frequency: 0.00004  dbSNP: rs201422368
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
Leeds Vision Research Group, University of Leeds RCV000172838 SCV000222249 pathogenic Retinal dystrophy 2014-11-01 criteria provided, single submitter reference population
Labcorp Genetics (formerly Invitae), Labcorp RCV001243723 SCV001416899 pathogenic not provided 2024-08-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp165*) in the DRAM2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DRAM2 are known to be pathogenic (PMID: 25983245). This variant is present in population databases (rs201422368, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with retinal dystrophy (PMID: 25983245). ClinVar contains an entry for this variant (Variation ID: 192239). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000186602 SCV000240209 pathogenic Cone-rod dystrophy 21 2015-05-12 no assertion criteria provided literature only

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.