ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) (rs45502896)

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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 RCV001004996 SCV001164554 likely pathogenic Leber congenital amaurosis 10 2018-12-03 criteria provided, single submitter research The heterozygous p.Glu277Ter variant in CEP290 was identified by our study in the compound heterozygous state, with a VUS, in one individual with Leber congenital amaurosis. The p.Glu277Ter variant in CEP290 has not been previously reported in individuals with Leber congenital amaurosis and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 277, which is predicted to lead to a truncated or absent protein. Loss of function of the CEP290 gene is an established disease mechanism in autosomal recessive Leber congenital amaurosis. In summary, although additional studies are required to fully establish its clinical significance, the clinial significance of this variant is likely pathogenic. Criteria applied: PM2, PVS1 (Richards 2015).

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