ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.547A>G (p.Ile183Val)

gnomAD frequency: 0.00001  dbSNP: rs1010958875
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994023 SCV001147310 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001585900 SCV001821753 uncertain significance Retinitis pigmentosa 20 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001593170 SCV001821864 uncertain significance Leber congenital amaurosis 2 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549849 SCV003270481 uncertain significance Leber congenital amaurosis 2; Retinitis pigmentosa 20 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 183 of the RPE65 protein (p.Ile183Val). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RPE65-related conditions. ClinVar contains an entry for this variant (Variation ID: 806151). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Breakthrough Genomics, Breakthrough Genomics RCV000994023 SCV005186752 uncertain significance not provided criteria provided, single submitter not provided

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