ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs) (rs386834158)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000392172 SCV000339354 pathogenic not provided 2016-02-12 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415183 SCV000493057 pathogenic Joubert syndrome; Polycystic kidney dysplasia; Abnormality of the kidney; Cerebellar vermis hypoplasia; Cerebellar cyst; Hyperechogenic kidneys 2014-01-29 criteria provided, single submitter clinical testing
Invitae RCV000815718 SCV000956184 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2018-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala1832Profs*19) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs386834158, ExAC 0.002%). This variant has been observed in combination with another CEP290 variant in individuals affected with Leber congenital amaurosis (PMID: 21245082, 20683928) and in two individuals with clinical features of Meckel-Gruber syndrome (PMID: 17705300). This variant is also known as 5489_5493delA, c.5489del and p.Gln1830fs  in the literature. ClinVar contains an entry for this variant (Variation ID: 56739). 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.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050152 SCV000082562 probable-pathogenic Meckel syndrome type 4 no assertion criteria provided not provided Converted during submission to Likely pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504936 SCV000599191 pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research

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