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

gnomAD frequency: 0.00026  dbSNP: rs61755767

Total submissions: 6

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.
Institute of Medical Molecular Genetics, University of Zurich	RCV001352968	SCV001548045	likely pathogenic	Vitelliform macular dystrophy 3	2021-01-30	criteria provided, single submitter	clinical testing
Invitae	RCV001462596	SCV001666516	likely benign	PRPH2-related disorder	2023-12-25	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888461	SCV004707365	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Retina International	RCV000085036	SCV000117172	not provided	not provided		no assertion provided	not provided
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.