ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5614del (p.Ser1872fs)

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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 RCV002824462 SCV003205828 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1872Valfs*2) 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 (no rsID available, gnomAD 0.02%). 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: 2000349). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV004725388 SCV005331902 pathogenic not provided 2023-10-29 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; Reported previously in an unaffected carrier in a publication; however, no further information was provided (PMID: 31964843); This variant is associated with the following publications: (PMID: 31964843)

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