ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs)

dbSNP: rs1598146589
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
Labcorp Genetics (formerly Invitae), Labcorp RCV003768467 SCV004571052 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2023-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe482Glyfs*78) in the GUCY2D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GUCY2D are known to be pathogenic (PMID: 10951519, 11328726). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with GUCY2D-related conditions (PMID: 17964524). ClinVar contains an entry for this variant (Variation ID: 636034). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787611 SCV000926595 likely pathogenic Leber congenital amaurosis 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.