ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)

dbSNP: rs62637006
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376503 SCV001573676 likely pathogenic Retinitis pigmentosa 20 2021-04-08 criteria provided, single submitter research The RPE65 c.1384G>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.
Invitae RCV002513922 SCV003523283 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2022-12-17 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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: 98845). This premature translational stop signal has been observed in individual(s) with autosomal recessive Leber congenital amaurosis and severe early childhood onset retinal dystrophy (PMID: 10766140, 28559085). This sequence change creates a premature translational stop signal (p.Glu462*) in the RPE65 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPE65 are known to be pathogenic (PMID: 9326941, 9501220, 9843205, 18632300).
Baylor Genetics RCV001250694 SCV004209281 pathogenic Leber congenital amaurosis 2 2023-03-14 criteria provided, single submitter clinical testing
Retina International RCV000085172 SCV000117309 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250694 SCV001425568 pathogenic Leber congenital amaurosis 2 no assertion criteria provided research
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV001250694 SCV004171584 pathogenic Leber congenital amaurosis 2 2023-11-24 no assertion criteria provided clinical testing

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