Submissions for variant NM_000322.5(PRPH2):c.441del (p.Gly148fs)

dbSNP: rs61755784

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
NEI Ophthalmic Genomics Laboratory, National Institutes of Health	RCV001250322	SCV001424642	pathogenic	Stargardt disease	2020-01-07	criteria provided, single submitter	clinical testing	The variant NM_000322.4:c.441delT in the PRPH2 gene has been previously studied(PMIDs 10627133, 22334370, 29555955). We found this variant in 1 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (rs61755784,CD972425). It is present in gnomAD browser (AF 0.00000406). It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PVS1, PM2, PP1] and classified NM_000322.4:c.441delT in the PRPH2 gene as a Pathogenic mutation.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001854487	SCV002240329	pathogenic	PRPH2-related disorder	2023-08-10	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gly148Alafs*5) in the PRPH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PRPH2 are known to be pathogenic (PMID: 8111389, 8485575, 8485576, 8675410, 16916875, 17504850, 22863181, 25675413, 26061163, 27365499, 29555955, 33546218). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 98668). This variant is also known as p.P147fs. This premature translational stop signal has been observed in individuals with PRPH2-related conditions (PMID: 10627133, 17504850, 22334370, 29555955). This variant is present in population databases (rs61755784, gnomAD 0.01%).
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004815031	SCV005072945	pathogenic	Retinal dystrophy	2013-01-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000084972	SCV005329987	pathogenic	not provided	2024-08-01	criteria provided, single submitter	clinical testing	PRPH2: PVS1, PM2, PS4:Moderate
Retina International	RCV000084972	SCV000117108	not provided	not provided		no assertion provided	not provided
Sharon lab, Hadassah-Hebrew University Medical Center	RCV001003148	SCV001161217	pathogenic	maculopathy	2019-06-23	no assertion criteria provided	research
Leiden Open Variation Database	RCV000084972	SCV001745133	pathogenic	not provided	2021-04-06	no assertion criteria provided	curation	Curator: Global Variome, with Curator vacancy. Submitters to LOVD: Global Variome, with Curator vacancy, Kornelia Neveling, LOVD, Manon Peeters.