ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8509G>T (p.Glu2837Ter)

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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 RCV003985957 SCV004801769 likely pathogenic CHARGE syndrome criteria provided, single submitter clinical testing A previously undescribed nucleotide variant creates a premature translation stop signal p.Glu2837Ter in the CHD7 gene. The variant was observed in heterozygous state in a newborn with congenital heart defect. Loss-of-function variants are reported in patients with CHARGE syndrome, 214800. 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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