ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.585C>T (p.Cys195=)

gnomAD frequency: 0.00007  dbSNP: rs571111378
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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 RCV003768911 SCV004697391 likely benign RPE65-related recessive retinopathy 2024-02-19 reviewed by expert panel curation NM_000329.3(RPE65):c.585C>T is a synonymous variant in codon 195, near the center of exon 6. This variant is present in gnomAD v.2.1.1 at a GrpMax allele frequency of 0.001447, with 56 alleles / 30602 total alleles in the South Asian population (with 1 homozygote), which is higher than the ClinGen LCA / eoRD VCEP BS1 threshold of >0.0008 (BS1). The splicing impact predictor SpliceAI gives a delta score of 0.00, 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: BS1, BP4, BP7. (VCEP specifications version 1.0.0; date of approval 09/21/2023).
Invitae RCV000946377 SCV001092506 benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2023-12-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003411909 SCV004128252 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing RPE65: BP4, BP7
Natera, Inc. RCV001832192 SCV002092766 likely benign Leber congenital amaurosis 2020-03-02 no assertion criteria provided clinical testing

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