Submissions for variant NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)

gnomAD frequency: 0.00001  dbSNP: rs199867882

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000585301	SCV000693113	likely pathogenic	not provided	2017-07-01	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV001074065	SCV001239634	pathogenic	Retinal dystrophy	2018-11-23	criteria provided, single submitter	clinical testing
Invitae	RCV000585301	SCV001411339	pathogenic	not provided	2024-01-22	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg1088*) in the IMPG2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IMPG2 are known to be pathogenic (PMID: 20673862). This variant is present in population databases (rs199867882, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 20673862). ClinVar contains an entry for this variant (Variation ID: 143151). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV001270127	SCV001448996	pathogenic	Vitelliform macular dystrophy 5	2018-05-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000585301	SCV001773846	pathogenic	not provided	2019-11-05	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; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 20673862, 31264916, 24876279, 25525159)
MGZ Medical Genetics Center	RCV001270127	SCV002581313	likely pathogenic	Vitelliform macular dystrophy 5	2022-03-07	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV001270127	SCV004027647	pathogenic	Vitelliform macular dystrophy 5	2023-07-11	criteria provided, single submitter	clinical testing	Criteria applied: PVS1,PS4,PM2_SUP
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000132676	SCV000172628	pathogenic	Retinitis pigmentosa		no assertion criteria provided	not provided	Converted during submission to Pathogenic.
Faculty of Health Sciences, Beirut Arab University	RCV001257827	SCV001434690	pathogenic	Autosomal recessive retinitis pigmentosa	2019-07-02	no assertion criteria provided	literature only
Clinical Genetics, Academic Medical Center	RCV000585301	SCV001918343	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000585301	SCV001956709	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000585301	SCV001973638	pathogenic	not provided		no assertion criteria provided	clinical testing