ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4028del (p.Lys1343fs)

dbSNP: rs1213286417
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757076 SCV000885169 pathogenic not provided 2017-10-20 criteria provided, single submitter clinical testing
Invitae RCV000817988 SCV000958576 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1343Argfs*2) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). This variant is present in population databases (no rsID available, gnomAD 0.02%). This premature translational stop signal has been observed in individuals with Leber congenital amaurosis and Joubert syndrome (PMID: 17345604, 29588463). ClinVar contains an entry for this variant (Variation ID: 618559). For these reasons, this variant has been classified as Pathogenic.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270095 SCV001448912 pathogenic Meckel syndrome, type 4 2017-11-10 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814230 SCV002061415 likely pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5 2021-06-29 criteria provided, single submitter clinical testing PVS1, PM2
Fulgent Genetics, Fulgent Genetics RCV002507328 SCV002816324 pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-12-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465675 SCV004216565 pathogenic Bardet-Biedl syndrome 14 2023-08-11 criteria provided, single submitter clinical testing

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