ClinVar Miner

Submissions for variant NM_014704.4(CEP104):c.1879G>T (p.Glu627Ter)

dbSNP: rs750473230
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252623 SCV002523977 likely pathogenic See cases 2021-03-28 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2
DASA RCV002300657 SCV002588760 pathogenic Joubert syndrome 25 2022-11-03 criteria provided, single submitter clinical testing The c.1879G>T;p.(Glu627*) variant creates a premature translational stop signal in the CEP104 gene. It is expected to result in an absent or disrupted protein product - PVS1. ClinVar contains an entry for this variant (ClinVar ID: 1691031) - PS4_supporting. This variant is not present in population databases (rs750473230, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is pathogenic.

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