ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1152C>G (p.Val384=)

dbSNP: rs1571158917
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Total submissions: 3
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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 RCV004527402 SCV005038790 likely benign RPE65-related recessive retinopathy 2024-04-22 reviewed by expert panel curation NM_000329.3(RPE65):c.1152C>G (p.Val384=) is a synonymous variant in exon 11. This variant is absent from gnomAD v.2.1.1 (PM2_Supporting). The splicing impact predictor SpliceAI gives a score of 0.02 for acceptor loss, which is below the ClinGen LCA / eoRD VCEP recommended threshold of <0.1 and does not predict an impact on splicing (BP4, BP7). In summary, this variant meets the criteria to be classified as likely benign for RPE65-related recessive retinopathy based on the ACMG/AMP criteria applied, as specified by the ClinGen LCA / eoRD VCEP: PM2_Supporting, BP4, and BP7. (VCEP specifications version 1.0.0; date of approval 09/21/2023).
Labcorp Genetics (formerly Invitae), Labcorp RCV000970584 SCV001118173 likely benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2023-05-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273297 SCV001456171 uncertain significance Leber congenital amaurosis 2020-03-11 no assertion criteria provided clinical testing

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