ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.946del (p.Cys316fs) (rs1064793749)

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
GeneDx RCV000481453 SCV000566933 pathogenic not provided 2015-06-12 criteria provided, single submitter clinical testing The c.946delT deletion in the RHO gene causes a frameshift starting with codon Cysteine 316, changesthis amino acid to a Alanine residue and creates a premature Stop codon at position 44 of the new readingframe, denoted p.Cys316AlafsX44. This variant is predicted to cause loss of normal protein functionthrough ablation of the C-terminal 33 amino acids of the rhodopsin protein, which may disrupt propertrafficking of rhodopsin in the photoreceptor (Concepcion et al., 2010). Multiple downstream frameshiftand nonsense variants have been reported in the Human Gene Mutation Database in association withadRP (Stenson et al., 2014). The c.946delT deletion was not observed in approximately 6,500 individualsof European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is nota common benign variant in these populations. Although this variant has not been previously reported toour knowledge, we consider it to be pathogenic.
GenomeConnect, ClinGen RCV000509396 SCV000606889 not provided Autosomal dominant retinitis pigmentosa no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.