ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5499_5500del (p.Gly1835fs)

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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 Laboratory, Motol Hospital RCV004771797 SCV005382552 pathogenic CHARGE syndrome 2024-10-24 criteria provided, single submitter clinical testing This variant was detected in a female with choanal atresia and congenital heart defect.The variant was confirmed to be of a de novo origin. De novo truncating variations (nonsense, frameshift) leading to haploinsufficiency were well documented as causative in the pathogenesis of CHARGE syndrome (OMIM:214800). To conclude, the variant is classified as pathogenic (ACMG PVS1, PS, PM2).

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