ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1559T>C (p.Ile520Thr)

gnomAD frequency: 0.00004  dbSNP: rs281865291
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001237268 SCV001410022 uncertain significance Leber congenital amaurosis 2; Retinitis pigmentosa 20 2022-08-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 520 of the RPE65 protein (p.Ile520Thr). This variant is present in population databases (rs281865291, gnomAD 0.02%). 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: 98849). 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 threonine 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.
Retina International RCV000085177 SCV000117314 not provided not provided no assertion provided not provided
Natera, Inc. RCV001826774 SCV002092730 uncertain significance Leber congenital amaurosis 2020-03-16 no assertion criteria provided clinical testing

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