ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5238C>G (p.Tyr1746Ter)

dbSNP: rs1554603151
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558253 SCV000631254 pathogenic CHARGE association 2017-03-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1746 (p.Tyr1746*) of the CHD7 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. 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).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000558253 SCV003919723 pathogenic CHARGE association 2023-04-26 criteria provided, single submitter clinical testing

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