ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.644-2A>C

gnomAD frequency: 0.00001  dbSNP: rs61752891
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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 RCV001935730 SCV002187966 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2022-08-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1416497). Disruption of this splice site has been observed in individuals with clinical features of inherited retinal dystrophy (PMID: 9501220; Invitae). This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change affects an acceptor splice site in intron 6 of the RPE65 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RPE65 are known to be pathogenic (PMID: 9326941, 9501220, 9843205, 18632300).

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