Submissions for variant NM_020366.4(RPGRIP1):c.2662C>T (p.Arg888Ter)

gnomAD frequency: 0.00002  dbSNP: rs1030149008

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000779134	SCV000915639	uncertain significance	RPGRIP1L-related disorder	2017-08-23	criteria provided, single submitter	clinical testing	The RPGRIP1 c.2662C>T (p.Arg888Ter) variant is a stop-gain variant that is predicted to cause premature termination of the protein. The p.Arg888Ter variant has been reported in a homozygous state in one six-year old girl who was born to a consanguineous Saudi Arabian family and diagnosed with severe cone-rod Leber congenital amaurosis (Eisenberger et al. 2013; Khan et al. 2013). The child exhibited poor vision at birth followed by progressive vision loss, photophobia, poor fixation, no oculodigital reflex, nystagmus and abnormal head position. There was no family history of the disorder. Control data are unavailable for the p.Arg888Ter variant but it is reported at a frequency of 0.000017 in the Total population of the Genoe Aggregation Database. Based on the limited evidence, the p.Arg888Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for RPGRIP1-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
CeGaT Center for Human Genetics Tuebingen	RCV001091752	SCV001247958	pathogenic	not provided	2018-06-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001800879	SCV002044525	likely pathogenic	Leber congenital amaurosis 6	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001800880	SCV002044536	likely pathogenic	Cone-rod dystrophy 13	2021-11-07	criteria provided, single submitter	clinical testing