ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.5041_5042dup (p.Met1681fs)

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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 RCV002928767 SCV003275177 uncertain significance Developmental and epileptic encephalopathy 94 2022-01-07 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with CHD2-related conditions. This sequence change creates a premature translational stop signal (p.Met1681Ilefs*134) in the CHD2 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 CHD2 protein.

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