ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1244-5C>T

gnomAD frequency: 0.00074  dbSNP: rs202185816
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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 RCV003768916 SCV004697395 likely benign RPE65-related recessive retinopathy 2024-02-20 reviewed by expert panel curation NM_000329.3(RPE65):c.1244-5C>T is a non-coding variant in intron 11 near the junction with exon 12. This variant is present in gnomAD v.2.1.1 at a GrpMax allele frequency of 0.002561, with 70 alleles / 24966 total alleles in the African/African-American population, which is higher than the ClinGen LCA / eoRD VCEP BS1 threshold of >0.0008 (BS1). The splicing impact predictor SpliceAI gives scores of 0.26 for acceptor gain and 0.20 for donor gain, which are above the ClinGen LCA / eoRD VCEP recommended threshold of >=0.2 and predict a damaging impact on splicing (PP3). 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: BS1 and PP3 (VCEP specifications version 1.0.0; date of approval 09/21/2023).
Invitae RCV000952401 SCV001098901 benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2024-01-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273296 SCV001456170 uncertain significance Leber congenital amaurosis 2020-04-30 no assertion criteria provided clinical testing

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