Submissions for variant NM_002900.3(RBP3):c.1162C>T (p.Arg388Ter)

gnomAD frequency: 0.00001  dbSNP: rs782245537

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ocular Genomics Institute, Massachusetts Eye and Ear	RCV001376320	SCV001573424	pathogenic	Retinitis pigmentosa 66	2021-04-08	criteria provided, single submitter	research	The RBP3 c.1162C>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: PM2, PVS1, PM3. Based on this evidence we have classified this variant as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003558771	SCV004294359	pathogenic	not provided	2023-07-19	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: 978973). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 23105016). This variant is present in population databases (rs782245537, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Arg388*) in the RBP3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RBP3 are known to be pathogenic (PMID: 9614228, 23105016, 25766589).
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV001376320	SCV004805987	uncertain significance	Retinitis pigmentosa 66	2024-03-25	criteria provided, single submitter	clinical testing
Faculty of Health Sciences, Beirut Arab University	RCV001257783	SCV001434646	pathogenic	Autosomal recessive retinitis pigmentosa	2012-10-26	no assertion criteria provided	literature only