ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.1512_1515delAGAG (p.Arg504Serfs) (rs886043303)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415286 SCV000492800 pathogenic Global developmental delay; Blindness 2015-08-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000360035 SCV000339353 pathogenic not provided 2016-02-12 criteria provided, single submitter clinical testing
Invitae RCV000636995 SCV000758443 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg504Serfs*10) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CEP290-related disease. ClinVar contains an entry for this variant (Variation ID: 286074). Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). For these reasons, this variant has been classified as Pathogenic.

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