ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.985C>T (p.Gln329Ter)

dbSNP: rs2138023519
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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 RCV002000210 SCV002235712 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2021-03-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln329*) 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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).

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