Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192854 | SCV000247023 | pathogenic | CHARGE association | 2015-03-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345689 | SCV002645526 | pathogenic | Inborn genetic diseases | 2017-07-06 | criteria provided, single submitter | clinical testing | The p.Q1675* pathogenic mutation (also known as c.5023C>T), located in coding exon 21 of the CHD7 gene, results from a C to T substitution at nucleotide position 5023. This changes the amino acid from a glutamine to a stop codon within coding exon 21. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |