ClinVar Miner

Submissions for variant NM_000330.4(RS1):c.97del (p.Trp33fs)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV003064673 SCV003444429 pathogenic not provided 2023-05-07 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with retinoschisis (PMID: 24529551). This sequence change creates a premature translational stop signal (p.Trp33Glyfs*93) in the RS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RS1 are known to be pathogenic (PMID: 9618178, 17172462). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 2138482). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817200 SCV005070697 pathogenic Retinal dystrophy 2018-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005045203 SCV005682769 pathogenic Juvenile retinoschisis 2024-04-11 criteria provided, single submitter 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.