ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3783del (p.Lys1261fs)

dbSNP: rs2036833257
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001235735 SCV001408439 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2019-09-12 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, 25377065, 28559085). 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.Lys1261Asnfs*30) in the CEP290 gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV003469433 SCV004216767 likely pathogenic Bardet-Biedl syndrome 14 2022-01-31 criteria provided, single submitter clinical testing

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