ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5415del (p.Thr1807fs)

dbSNP: rs1592808035
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000793218 SCV000932560 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2018-10-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1807Glnfs*9) 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. 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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