ClinVar Miner

Submissions for variant NM_000329.2(RPE65):c.130C>T (p.Arg44Ter) (rs368088025)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416243 SCV000493266 likely pathogenic not provided 2016-08-31 criteria provided, single submitter clinical testing
Invitae RCV000528380 SCV000644181 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2017-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 44 (p.Arg44*) of 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. This particular variant has been reported in the literature in individuals affected with Leber congenital amaurosis (PMID: 26626312). For these reasons, this variant has been classified as Pathogenic.
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787883 SCV000926899 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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