ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1338+1G>A

dbSNP: rs1057518922
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415360 SCV000492929 pathogenic Congenital blindness; Abnormality of vision; Abnormal electroretinogram; Retinal degeneration 2014-11-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001066256 SCV001231263 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2022-10-02 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 12 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 not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with retinitis pigmentosa (PMID: 32367544). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 374139). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198362 SCV001369272 pathogenic Retinitis pigmentosa 20 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. This variant was detected in homozygous state.
Baylor Genetics RCV003470368 SCV004209297 pathogenic Leber congenital amaurosis 2 2024-01-05 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816644 SCV005071099 pathogenic Retinal dystrophy 2019-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005033948 SCV005660837 likely pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20; Retinitis pigmentosa 87 with choroidal involvement 2024-06-06 criteria provided, single submitter clinical testing

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