Submissions for variant NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val)

gnomAD frequency: 0.00084  dbSNP: rs372615343

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Paul Sabatier University EA-4555, Paul Sabatier University	RCV000207372	SCV000259134	likely benign	Anophthalmia-microphthalmia syndrome	2013-01-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000384797	SCV000341028	uncertain significance	not provided	2016-04-14	criteria provided, single submitter	clinical testing
Invitae	RCV001086986	SCV001131934	likely benign	Cone-rod dystrophy 13; Leber congenital amaurosis 6	2024-01-26	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001002218	SCV001160092	uncertain significance	not specified	2018-12-12	criteria provided, single submitter	clinical testing	The RPGRIP1 c.808A>G; p.Ile270Val variant (rs372615343) is reported in the medical literature in an individual with an ocular development anomaly, but was not determined to be causative (Chassaing 2016). The variant is reported in the ClinVar database (Variation ID: 221937) and in the general population in 50 out of 205878 alleles. The amino acid at this position is moderately conserved across species but computational analyses (SIFT: Tolerated, PolyPhen-2: Probably Damaging) predict conflicting effects of this variant on protein structure/function. Considering available information, the clinical significance of this variant cannot be determined with certainty. References: Chassaing N et al. Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. Genome Res. 2016 Apr;26(4):474-85.
Genome-Nilou Lab	RCV001800533	SCV002045658	uncertain significance	Leber congenital amaurosis 6	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001800534	SCV002045756	uncertain significance	Cone-rod dystrophy 13	2021-11-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955239	SCV004770344	likely benign	RPGRIP1-related disorder	2022-05-25	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).