ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.851C>T (p.Thr284Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003098916 SCV003482395 uncertain significance Leber congenital amaurosis 2; Retinitis pigmentosa 20 2022-09-07 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 284 of the RPE65 protein (p.Thr284Ile). This variant is present in population databases (rs762063627, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with RPE65-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004073183 SCV005014655 uncertain significance Inborn genetic diseases 2024-02-26 criteria provided, single submitter clinical testing The c.851C>T (p.T284I) alteration is located in exon 8 (coding exon 8) of the RPE65 gene. This alteration results from a C to T substitution at nucleotide position 851, causing the threonine (T) at amino acid position 284 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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