ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.138del (p.Pro47fs)

dbSNP: rs61752865
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Leber Congenital Amaurosis/early Onset Retinal Dystrophy Variant Curation Expert Panel, ClinGen RCV004595853 SCV005088576 pathogenic RPE65-related recessive retinopathy 2024-07-23 reviewed by expert panel curation NM_000329.3(RPE65):c.138del (p.Pro47GlnfsTer47) is a frameshift variant that introduces a premature stop codon into exon 3 of 14, and is predicted to lead to nonsense-mediated decay in a gene in which loss-of-function is an established mechanism of disease (PVS1). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). This variant has been reported in at least 2 unrelated probands with early-onset severe retinal dystrophy who were homozygous for the variant (1 point, PMID: 36017377, PM3). In summary, this variant meets the criteria to be classified as pathogenic for RPE65-related recessive retinopathy based on the ACMG/AMP criteria applied, as specified by the ClinGen LCA / eoRD VCEP: PVS1, PM2_supporting, and PM3. (VCEP specifications version 1.0.0; date of approval 09/21/2023)
Baylor Genetics RCV001250677 SCV005055430 pathogenic Leber congenital amaurosis 2 2024-03-30 criteria provided, single submitter clinical testing
Retina International RCV000085170 SCV000117307 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250677 SCV001425547 pathogenic Leber congenital amaurosis 2 no assertion criteria provided research

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