ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.11+2T>G

gnomAD frequency: 0.00001  dbSNP: rs778768116
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001230466 SCV001402947 likely pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2024-01-30 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 1 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). This variant is present in population databases (rs778768116, gnomAD 0.009%). Disruption of this splice site has been observed in individual(s) with clinical features of RPE65-related conditions (PMID: 31429209). ClinVar contains an entry for this variant (Variation ID: 957480). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV003469408 SCV004209299 pathogenic Leber congenital amaurosis 2 2022-05-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833994 SCV002092785 likely pathogenic Leber congenital amaurosis 2021-04-21 no assertion criteria provided clinical testing

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