Submissions for variant NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter)

gnomAD frequency: 0.00006  dbSNP: rs121918579

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000627220	SCV000230892	pathogenic	not provided	2014-08-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000627220	SCV000748208	pathogenic	not provided	2025-01-14	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 7724547, 32531858, 25525159, 25827439, 28981474, 28041643, 30998820, 32581362, 31589614, 31964843, 37217489, 34906470, 38219857, 29472945, 8394174, 22334370, 33673512, 32037395, 36672815, 36819107)
Blueprint Genetics	RCV001074585	SCV001240176	pathogenic	Retinal dystrophy	2019-01-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000627220	SCV001246492	pathogenic	not provided	2022-08-01	criteria provided, single submitter	clinical testing	PDE6B: PVS1, PM2
Ocular Genomics Institute, Massachusetts Eye and Ear	RCV000013982	SCV001573377	pathogenic	Retinitis pigmentosa 40	2021-04-08	criteria provided, single submitter	research	The PDE6B c.892C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PP1, PP3. Based on this evidence we have classified this variant as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000627220	SCV001588912	pathogenic	not provided	2025-01-06	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln298*) in the PDE6B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PDE6B are known to be pathogenic (PMID: 8394174, 8595886, 22334370). This variant is present in population databases (rs121918579, gnomAD 0.008%). This premature translational stop signal has been observed in individuals with autosomal recessive retinitis pigmentosa (PMID: 8394174, 28041643, 29472945). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 13103). For these reasons, this variant has been classified as Pathogenic.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV000504946	SCV001950316	pathogenic	Retinitis pigmentosa	2021-04-01	criteria provided, single submitter	curation	The p.Gln298Ter variant in PDE6B was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PP1, PP3. Based on this evidence we have classified this variant as Pathogenic. If you have any questions about the classification please reach out to the Pierce Lab.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV001074585	SCV005071184	pathogenic	Retinal dystrophy	2021-01-01	criteria provided, single submitter	clinical testing
OMIM	RCV000013982	SCV000034229	pathogenic	Retinitis pigmentosa 40	1993-06-01	no assertion criteria provided	literature only
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000504946	SCV000599145	pathogenic	Retinitis pigmentosa	2015-01-01	no assertion criteria provided	research
Clinical Genetics, Academic Medical Center	RCV000627220	SCV001922464	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000627220	SCV001951594	pathogenic	not provided		no assertion criteria provided	clinical testing