Submissions for variant NM_020366.4(RPGRIP1):c.1116del (p.Lys372fs)

dbSNP: rs776880045

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001238890	SCV001411723	pathogenic	Cone-rod dystrophy 13; Leber congenital amaurosis 6	2023-11-06	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Lys372Asnfs*3) in the RPGRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1 are known to be pathogenic (PMID: 11528500, 23105016). This variant is present in population databases (rs776880045, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 28041643). ClinVar contains an entry for this variant (Variation ID: 438160). 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.
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000504638	SCV000599098	likely pathogenic	Leber congenital amaurosis	2015-01-01	no assertion criteria provided	research
Laboratory of Genetics in Ophthalmology, Institut Imagine	RCV001261191	SCV001438591	pathogenic	Leber congenital amaurosis 6		no assertion criteria provided	research