Submissions for variant NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter)

gnomAD frequency: 0.00001  dbSNP: rs763295314

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	RCV000171367	SCV000221564	likely pathogenic	not provided		criteria provided, single submitter	research
Invitae	RCV000171367	SCV002235308	pathogenic	not provided	2022-06-13	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 191181). This premature translational stop signal has been observed in individual(s) with autosomal recessive retinitis pigmentosa (PMID: 24876279, 25999674). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr171*) 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).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000678577	SCV000804659	pathogenic	Vitelliform macular dystrophy 5	2016-09-01	no assertion criteria provided	clinical testing
Faculty of Health Sciences, Beirut Arab University	RCV001257828	SCV001434691	pathogenic	Autosomal recessive retinitis pigmentosa	2015-09-10	no assertion criteria provided	literature only