ClinVar Miner

Submissions for variant NM_001807.6(CEL):c.850C>T (p.Arg284Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005040766 SCV005681355 uncertain significance Maturity-onset diabetes of the young type 8 2024-04-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004756766 SCV005349985 uncertain significance CEL-related disorder 2024-08-14 no assertion criteria provided clinical testing The CEL c.859C>T variant is predicted to result in premature protein termination (p.Arg287*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of East Asian descent in gnomAD. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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