ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) (rs1592833648)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group, Broad Institute RCV000785965 SCV000924548 likely pathogenic Joubert syndrome 5 2018-06-15 criteria provided, single submitter research The homozygous p.Lys1598SerfsTer8 variant was identified by our study in an 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.

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