ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs)

dbSNP: rs754012367
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176038 SCV000227625 pathogenic not provided 2015-02-02 criteria provided, single submitter clinical testing
Invitae RCV000176038 SCV001401960 pathogenic not provided 2023-07-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 195462). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 30718709). This variant is present in population databases (rs754012367, gnomAD 0.005%). This sequence change creates a premature translational stop signal (p.Asp778Leufs*42) in the PDE6A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PDE6A are known to be pathogenic (PMID: 7493036, 22128245, 23847139).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000176038 SCV001447243 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376193 SCV001573245 pathogenic Retinitis pigmentosa 43 2021-04-08 criteria provided, single submitter research The PDE6A c.2332_2335del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PP3. Based on this evidence we have classified this variant as Pathogenic.
MGZ Medical Genetics Center RCV001376193 SCV002579893 likely pathogenic Retinitis pigmentosa 43 2022-05-23 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787640 SCV000926625 pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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.