Submissions for variant NM_016247.4(IMPG2):c.2890C>T (p.Arg964Ter)

gnomAD frequency: 0.00002  dbSNP: rs267606875

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001053603	SCV001217874	pathogenic	not provided	2023-10-04	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg964*) 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 (rs267606875, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa or macular dystrophy (PMID: 20673862, 24876279, 30718709). ClinVar contains an entry for this variant (Variation ID: 3549). For these reasons, this variant has been classified as Pathogenic.
Dept Of Ophthalmology, Nagoya University	RCV003887852	SCV004705601	pathogenic	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
OMIM	RCV000003727	SCV000023890	pathogenic	Retinitis pigmentosa 56	2010-08-13	no assertion criteria provided	literature only
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	RCV000787843	SCV000926857	likely pathogenic	Macular dystrophy	2018-04-01	no assertion criteria provided	research