ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3176del (p.Ile1059fs)

dbSNP: rs863225184
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201524 SCV000256377 pathogenic Joubert syndrome 5 2015-02-23 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001383421 SCV001582562 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2020-06-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115, 25377065, 28559085). This variant has been observed to be homozygous in an individual affected with Joubert syndrome (PMID: 16682970). ClinVar contains an entry for this variant (Variation ID: 217629). This sequence change creates a premature translational stop signal (p.Ile1059Lysfs*6) in the CEP290 gene. It is expected to result in an absent or disrupted protein product.
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814112 SCV001755341 pathogenic Abnormality of the nervous system 2021-07-10 criteria provided, single submitter clinical testing

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