ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.6869dupA (p.Asn2290Lysfs) (rs587783017)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457302 SCV000541578 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2018-08-27 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 50 of the CEP290 mRNA (c.6869dupA), causing a frameshift at codon 2290. This creates a premature translational stop signal (p.Asn2290Lysfs*6) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP290 are known to be pathogenic. This particular variant has been reported in the literature in an individual with Leber congenital amaurosis occurring as heterozygous with another pathogenic variant in CEP290 (p.Gln1303*) and reported as c.6869_6870insA (PMID: 25445212). For these reasons, this variant has been classified as Pathogenic.
Molecular Diagnostics Laboratory,Seoul National University Hospital RCV000144468 SCV000189603 pathogenic Leber congenital amaurosis 10 2014-09-18 no assertion criteria provided clinical testing

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