ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1396_1397dup (p.Pro467fs)

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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 RCV003800675 SCV004591119 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2023-04-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the RPE65 protein in which other variant(s) (p.Arg515Trp) have been determined to be pathogenic (PMID: 15557452, 25495949, 25752820, 31273949). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with RPE65-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro467Thrfs*20) in the RPE65 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 67 amino acid(s) of the RPE65 protein.

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