ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7297del (p.Val2433fs)

dbSNP: rs1064793972
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482952 SCV000567489 pathogenic not provided 2015-07-29 criteria provided, single submitter clinical testing The c.7297delG deletion in the CHD7 gene causes a frameshift starting with codon Valine 2433, changesthis amino acid to a Serine residue and creates a premature Stop codon at position 10 of the new readingframe, denoted p.Val2433SerfsX10. This variant is predicted to cause loss of normal protein functioneither through protein truncation or nonsense-mediated mRNA decay. Although this deletion has not beenpreviously reported to our knowledge, we consider it to be a pathogenic variant.
Institute of Human Genetics, University of Leipzig Medical Center RCV001253666 SCV001429504 pathogenic CHARGE syndrome 2017-11-08 criteria provided, single submitter clinical testing

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