ClinVar Miner

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

gnomAD frequency: 0.00084  dbSNP: rs372615343
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Total submissions: 7
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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).

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