ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8067del (p.Lys2690fs)

dbSNP: rs1554606375
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551048 SCV000631282 pathogenic CHARGE association 2017-05-31 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 37 of the CHD7 mRNA (c.8067delT), causing a frameshift at codon 2690. This creates a premature translational stop signal in the last exon of the CHD7 mRNA (p.Lys2690Serfs*19). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 289 amino acids of the CHD7 protein. For these reasons, this variant has been classified as Pathogenic. A truncation downstream of this variant ( c.8803G>T, p.Glu2935*) has been determined to be pathogenic (PMID: 19021638). This suggests that deletion of this region of the CHD7 protein is causative of disease. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CHD7-related disease.

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