ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) (rs1567800920)

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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 RCV000785895 SCV000924471 likely pathogenic Joubert syndrome 7 2018-06-15 criteria provided, single submitter research The homozygous p.Trp1198Ter 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.

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