Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
RCV000853378 | SCV000996249 | pathogenic | CHARGE association | 2019-02-20 | criteria provided, single submitter | clinical testing | This frameshifting variant in exon 2 of 38 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function. A frameshift variant at the same amino acid position has been previously reported as a de novo change in an individual with CHARGE syndrome (PMID: 16169932). Additionally, multiple pathogenic variants downstream of the p.Ala270ProfsTer35 variants in CHD7 have been reported in the Human Gene Mutation Database (HGMD). It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Based on the available evidence, the c.807del (p.Ala270ProfsTer35) variant is classified as pathogenic. |