ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) (rs773047607)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462550 SCV000552238 pathogenic CHARGE association 2016-10-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 2429 (p.Glu2429*) of the CHD7 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in CHD7 are known to be pathogenic (PMID: 16400610, 22461308). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Klinikum rechts der Isar RCV000462550 SCV000680171 likely pathogenic CHARGE association 2017-12-13 criteria provided, single submitter clinical testing

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