ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1409C>A (p.Pro470His)

dbSNP: rs774211361
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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 RCV001227306 SCV001399659 uncertain significance Leber congenital amaurosis 2; Retinitis pigmentosa 20 2019-08-26 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This sequence change replaces proline with histidine at codon 470 of the RPE65 protein (p.Pro470His). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with retinitis pigmentosa (Invitae). This variant disrupts the p.Pro470 amino acid residue in RPE65. Other variant(s) that disrupt this residue have been observed in individuals with RPE65-related conditions (PMID: 18484312), which suggests that this may be a clinically significant amino acid residue. 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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