ClinVar Miner

Submissions for variant NM_020366.3(RPGRIP1):c.1116del (p.Lys372fs) (rs776880045)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238890 SCV001411723 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2019-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys372Asnfs*3) in the RPGRIP1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs776880045, ExAC 0.002%). This variant has been observed in an individual with Leber congenital amaurosis (PMID: 28041643). ClinVar contains an entry for this variant (Variation ID: 438160). Loss-of-function variants in RPGRIP1 are known to be pathogenic (PMID: 11528500, 23105016). For these reasons, this variant has been classified as Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504638 SCV000599098 likely pathogenic Leber congenital amaurosis 2015-01-01 no assertion criteria provided research
Laboratory of Genetics in Ophthalmology,Institut Imagine RCV001261191 SCV001438591 pathogenic Leber congenital amaurosis 6 no assertion criteria provided research

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