ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3623T>A (p.Val1208Asp)

dbSNP: rs886040988
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000258101 SCV000328333 likely pathogenic CHARGE association 2016-09-05 criteria provided, single submitter clinical testing
GeneDx RCV000494643 SCV000582382 likely pathogenic not provided 2017-03-30 criteria provided, single submitter clinical testing The V1208D missense substitution has been observed previously in a patient with suspected CHARGE syndrome referred for CHD7 sequence analysis at GeneDx. Additionally, V1208D is reported as likely pathogenic in ClinVar by a different clinical laboratory and apparently occurred de novo in a patient with CHARGE (ClinVar SCV000328333.1 personal communication; Landrum et al., 2016). V1208D is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). It is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Furthermore, this substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Ambry Genetics RCV000623136 SCV000741069 pathogenic Inborn genetic diseases 2015-10-02 criteria provided, single submitter clinical testing

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