Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001223181 | SCV001395318 | pathogenic | CHARGE association | 2019-05-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CHD7 are known to be pathogenic (PMID: 22461308, 25077900). This variant has not been reported in the literature in individuals with CHD7-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp1786*) in the CHD7 gene. It is expected to result in an absent or disrupted protein product. |
| Ambry Genetics | RCV002348746 | SCV002645078 | pathogenic | Inborn genetic diseases | 2014-07-15 | criteria provided, single submitter | clinical testing | The p.W1786* pathogenic mutation (also known as c.5357G>A) located in coding exon 24 of the CHD7 gene, results from a G to A substitution at nucleotide position 5357. This changes the amino acid from a tryptophan to a stop codon within coding exon 24. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
| Gene |
RCV003163736 | SCV003914982 | pathogenic | not provided | 2022-10-06 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |