Submissions for variant NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu)

gnomAD frequency: 0.00079  dbSNP: rs62645939

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000085028	SCV001249898	uncertain significance	not provided	2021-09-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001161271	SCV001323130	uncertain significance	Retinitis pigmentosa	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
NEI Ophthalmic Genomics Laboratory, National Institutes of Health	RCV001250360	SCV001424688	uncertain significance	Stargardt disease	2020-01-07	criteria provided, single submitter	clinical testing	The variant NM_000322.4:c.866C>T in the PRPH2 gene has been previously studied(PMID 9279751). 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 (rs62645939, CM971294). It is present in gnomAD browser (AF 0.0006497). It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PM2, PP3] and classified NM_000322.4:c.866C>T in the PRPH2 gene as a Variant of Uncertain Significance.
Invitae	RCV001438086	SCV001640953	likely benign	PRPH2-Related Disorders	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000085028	SCV002757757	uncertain significance	not provided	2022-11-22	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 10193525, 34411390, 32531858, 9279751, 32037395, 32531846, 32717343, 19038374)
Retina International	RCV000085028	SCV000117164	not provided	not provided		no assertion provided	not provided
Leiden Open Variation Database	RCV000085028	SCV001745118	uncertain significance	not provided	2021-04-06	no assertion criteria provided	curation	Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters. Comment: Variant observed de novo.
Clinical Genetics, Academic Medical Center	RCV000085028	SCV001920576	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000085028	SCV001964843	likely benign	not provided		no assertion criteria provided	clinical testing