ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3422dup (p.Leu1141fs)

dbSNP: rs770474857
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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 RCV001226858 SCV001399185 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-07-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 954408). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 20683928). This variant is present in population databases (rs770474857, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Leu1141Phefs*5) 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 RCV003469397 SCV004216632 pathogenic Bardet-Biedl syndrome 14 2023-05-31 criteria provided, single submitter clinical testing

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