ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.440_441del (p.Thr147fs)

dbSNP: rs1201299067
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388258 SCV001589178 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2023-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr147Argfs*9) 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). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with clinical features of Leber congenital amaurosis (PMID: 17724218). This variant is also known as c.438-439delCA. ClinVar contains an entry for this variant (Variation ID: 973965). 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.
Fulgent Genetics, Fulgent Genetics RCV002499440 SCV002813839 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20; Retinitis pigmentosa 87 with choroidal involvement 2024-04-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV001250704 SCV005055434 pathogenic Leber congenital amaurosis 2 2024-03-18 criteria provided, single submitter clinical testing
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250704 SCV001425579 pathogenic Leber congenital amaurosis 2 no assertion criteria provided research
Natera, Inc. RCV001830054 SCV002092770 pathogenic Leber congenital amaurosis 2020-09-14 no assertion criteria provided clinical testing

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