Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000258101 | SCV000328333 | likely pathogenic | CHARGE association | 2016-09-05 | criteria provided, single submitter | clinical testing | |
Gene |
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 |