ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.94A>G (p.Ile32Val)

gnomAD frequency: 0.00026  dbSNP: rs61755767
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250380 SCV001424716 uncertain significance Stargardt disease 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.94A>G in the PRPH2 gene has been previously studied(Kajiwara (1994) Invest Ophthalmol Vis Sci 35 1717A and PMID 18161617). We found this variant in 2 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (rs61755767,CM951113). It is present in gnomAD browser (AF 0.0008937). It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PM2, BP4] and classified NM_000322.4:c.94A>G in the PRPH2 gene as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001462596 SCV001666516 likely benign PRPH2-related disorder 2025-01-06 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888461 SCV004707365 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815042 SCV005069559 uncertain significance Optic atrophy 2023-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV003888461 SCV005073458 uncertain significance Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing
Retina International RCV000085036 SCV000117172 not provided not provided no assertion provided not provided
Institute of Medical Molecular Genetics, University of Zurich RCV001352968 SCV001548045 likely pathogenic Vitelliform macular dystrophy 3 2021-01-30 flagged submission clinical testing
Leiden Open Variation Database RCV001530276 SCV001745032 likely benign not specified 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitters to LOVD: Manon Peeters, Yoshito Koyanagi.

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.