ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1347dup (p.Asp450fs)

dbSNP: rs774490795
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075118 SCV001240729 likely pathogenic Retinal dystrophy 2018-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862596 SCV002127754 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-05-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 866808). For these reasons, this variant has been classified as Pathogenic. 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.Asp450Argfs*3) 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). This variant is present in population databases (rs774490795, gnomAD 0.0009%).
Baylor Genetics RCV003469277 SCV004216760 likely pathogenic Bardet-Biedl syndrome 14 2022-03-23 criteria provided, single submitter clinical testing
GeneDx RCV004726871 SCV005331903 likely pathogenic not provided 2023-10-18 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31964843)

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