ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3123dup (p.Lys1042Ter)

dbSNP: rs1555212271
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522539 SCV000619544 pathogenic not provided 2023-09-01 criteria provided, single submitter clinical testing Nonsense 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001857990 SCV002229312 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-02-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1042*) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. ClinVar contains an entry for this variant (Variation ID: 450915). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003470654 SCV004216510 likely pathogenic Bardet-Biedl syndrome 14 2023-10-02 criteria provided, single submitter clinical testing

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