ClinVar Miner

Submissions for variant NM_032436.4(CHAMP1):c.2027dup (p.Glu677fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology RCV003986001 SCV004801827 likely pathogenic Intellectual disability, autosomal dominant 40 criteria provided, single submitter clinical testing A previously undescribed nucleotide variant creates a frameshift p.Glu677ArgfsTer4 in the CHAMP1 gene. The variant was observed in heterozygous state in an individual affected with motor delay, hypotonia and dysmorphic features. Loss-of-function variants are reported in patients with Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, 616579. The variant is not present in population database (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as likely pathogenic.

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