ClinVar Miner

Submissions for variant NM_014704.4(CEP104):c.895C>T (p.Arg299Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003418846 SCV004115603 likely pathogenic CEP104-related disorder 2022-12-30 criteria provided, single submitter clinical testing The CEP104 c.895C>T variant is predicted to result in premature protein termination (p.Arg299*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-3754080-G-A). Nonsense variants in CEP104 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005030023 SCV005654335 likely pathogenic Joubert syndrome 25; Intellectual developmental disorder, autosomal recessive 77 2024-02-29 criteria provided, single submitter clinical testing

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