ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.380A>G (p.Glu127Gly)

gnomAD frequency: 0.00003  dbSNP: rs543703718
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250301 SCV001424614 uncertain significance Cone-rod dystrophy 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.380A>G in the PRPH2 gene has been previously studied (PMID 26155838). We found this variant in 3 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (rs543703718; CM156688). It is present in gnomAD browser (AF 0.0003577). This variant is not already listed in ClinVar. It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PM2, PP3, PP1-M] and classified NM_000322.4:c.380A>G in the PRPH2 gene as a Variant of Uncertain Significance.
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250302 SCV001424615 uncertain significance Stargardt disease 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.380A>G in the PRPH2 gene has been previously studied (PMID 26155838). We found this variant in 3 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (rs543703718; CM156688). It is present in gnomAD browser (AF 0.0003577). This variant is not already listed in ClinVar. It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PM2, PP3, PP1-M] and classified NM_000322.4:c.380A>G in the PRPH2 gene as a Variant of Uncertain Significance.
Invitae RCV001400129 SCV001601932 likely benign PRPH2-related disorder 2023-11-28 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001530280 SCV001745038 likely pathogenic not provided 2021-05-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters. Comment: Variant observed de novo.

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.