ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5972del (p.Lys1991fs)

dbSNP: rs1468269366
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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 RCV002004700 SCV002233428 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-05-26 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.006%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1449848). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. This sequence change creates a premature translational stop signal (p.Lys1991Argfs*6) 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).
Baylor Genetics RCV003471110 SCV004216754 likely pathogenic Bardet-Biedl syndrome 14 2023-12-29 criteria provided, single submitter clinical testing

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