ClinVar Miner

Submissions for variant NM_024548.4(CEP97):c.2153del (p.Leu718fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002630273 SCV002957730 uncertain significance not provided 2022-10-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CEP97-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is present in population databases (rs750600855, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Leu718Trpfs*15) in the CEP97 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 148 amino acid(s) of the CEP97 protein.

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