Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145658 | SCV000192759 | pathogenic | CHARGE association | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426702 | SCV002744550 | likely pathogenic | Inborn genetic diseases | 2018-01-30 | criteria provided, single submitter | clinical testing | The c.2613+1G>A intronic variant results from a G to A substitution one nucleotide after coding exon 7 of the CHD7 gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic. |