ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter)

gnomAD frequency: 0.00001  dbSNP: rs1186821575
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047416 SCV001211375 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu543*) 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 0.01%). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 28453600). ClinVar contains an entry for this variant (Variation ID: 844541). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003467750 SCV004216634 pathogenic Bardet-Biedl syndrome 14 2023-05-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832446 SCV002094323 pathogenic Leber congenital amaurosis 2021-04-29 no assertion criteria provided clinical testing

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