ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter)

gnomAD frequency: 0.00001  dbSNP: rs398124354
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082001 SCV000113936 pathogenic not provided 2013-10-24 criteria provided, single submitter clinical testing
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000710048 SCV000840426 pathogenic Leber congenital amaurosis 2018-04-13 criteria provided, single submitter clinical testing This variant was identified in combination with another variant in the same gene (compound heterozygosity) in patient with Leber congenital amaurosis.
Genome-Nilou Lab RCV001800386 SCV002045231 pathogenic Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800387 SCV002045242 pathogenic Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing
Invitae RCV001857395 SCV002235173 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-06-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 95949). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. This variant is present in population databases (rs398124354, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Trp925*) in the RPGRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1 are known to be pathogenic (PMID: 11528500, 23105016).

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