ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.548T>C (p.Ile183Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003789271 SCV004574896 uncertain significance Leber congenital amaurosis 2; Retinitis pigmentosa 20 2024-01-06 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 183 of the RPE65 protein (p.Ile183Thr). This variant is present in population databases (rs188244770, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with RPE65-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RPE65 protein function with a negative predictive value of 80%. 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.

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