ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.386C>T (p.Thr129Ile)

dbSNP: rs768336015
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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 RCV001922452 SCV002171036 uncertain significance Leber congenital amaurosis 2; Retinitis pigmentosa 20 2022-03-10 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 129 of the RPE65 protein (p.Thr129Ile). This variant is present in population databases (rs768336015, gnomAD 0.003%). This missense change has been observed in individuals with RPE65-related conditions (PMID: 31736247; Invitae). 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: "Probably 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.

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