ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter) (rs1465414886)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group, Broad Institute RCV000785903 SCV000924479 likely pathogenic Joubert syndrome 5 2018-06-15 criteria provided, single submitter research The homozygous p.Gln536Ter variant was identified by our study in one individual with Joubert syndrome. This variant was absent from large population studies. Loss of function of the CEP290 gene is an established disease mechanism in autosomal recessive Joubert syndrome, and this is a loss of function variant. In summary, although additional studies are required to fully establish its pathogenicity, this variant is likely pathogenic.
Invitae RCV001383424 SCV001582565 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2020-10-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln536*) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Joubert syndrome (PMID: 23559409). ClinVar contains an entry for this variant (Variation ID: 635030). Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115, 25377065, 28559085). For these reasons, this variant has been classified as Pathogenic.

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