ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8049del (p.Asp2684fs)

dbSNP: rs1586463029
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000850359 SCV000992539 pathogenic CHARGE association 2019-01-09 criteria provided, single submitter research ACMG codes: PVS1, PM2, PP4
Invitae RCV000850359 SCV004446694 pathogenic CHARGE association 2023-03-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp2684Thrfs*5) in the CHD7 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 314 amino acid(s) of the CHD7 protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CHD7 protein in which other variant(s) (p.Asp2988Glyfs*2) have been determined to be pathogenic (PMID: 8073582, 31564432). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 689612). This variant has not been reported in the literature in individuals affected with CHD7-related conditions. This variant is not present in population databases (gnomAD no frequency).

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