ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6043_6053del (p.Val2015fs)

dbSNP: rs2035124136
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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 RCV001049397 SCV001213443 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2019-02-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). This variant has not been reported in the literature in individuals with CEP290-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val2015Thrfs*5) in the CEP290 gene. It is expected to result in an absent or disrupted protein product.

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