ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) (rs774130993)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817537 SCV000958103 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2019-09-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp402*) in the RPE65 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs774130993, ExAC 0.03%). This variant has been observed in an individual affected with Leber congenital amaurosis (PMID: 17964524). Loss-of-function variants in RPE65 are known to be pathogenic (PMID: 9326941, 9501220, 18632300). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075233 SCV001240847 pathogenic Retinal dystrophy 2017-03-27 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV001089892 SCV001245399 likely pathogenic Leber congenital amaurosis 2 2020-02-14 criteria provided, single submitter curation This variant is interpreted as likely pathogenic for Leber congenital amaurosis 2, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PVS1-Strong.
Laboratory of Genetics in Ophthalmology,Institut Imagine RCV001089892 SCV001425583 pathogenic Leber congenital amaurosis 2 no assertion criteria provided research

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