ClinVar Miner

Submissions for variant NM_020366.3(RPGRIP1):c.3358A>G (p.Ile1120Val) (rs137853911)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000086972 SCV001149119 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Invitae RCV001059148 SCV001223760 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2019-12-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 1120 of the RPGRIP1 protein (p.Ile1120Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs137853911, ExAC 0.05%). This variant has not been reported in the literature in individuals with RPGRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 100589). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Illumina Clinical Services Laboratory,Illumina RCV001111368 SCV001268918 uncertain significance Leber congenital amaurosis 6 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001111369 SCV001268919 uncertain significance Cone-rod dystrophy 13 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000086972 SCV000119225 not provided not provided no assertion provided not provided

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