Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV000679949 | SCV000807383 | pathogenic | CHARGE syndrome | 2017-09-01 | criteria provided, single submitter | clinical testing | This mutation has been previously reported as disease-causing and was found once in our laboratory de novo in a 3-month-old female with dysmorphic features, ODA, upper airway obstruction, dysphagia, possible Dandy-Walker malformation, hypotension, bilateral retinal coloboma, possible hearing loss. |
| Labcorp Genetics |
RCV000679949 | SCV001404812 | pathogenic | CHARGE syndrome | 2019-10-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Asn96Thrfs*115) in the CHD7 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with CHARGE syndrome (PMID: 22461308). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 560976). Loss-of-function variants in CHD7 are known to be pathogenic (PMID: 22461308, 25077900). |
| 3billion, |
RCV000679949 | SCV003841959 | pathogenic | CHARGE syndrome | 2023-02-23 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000560976 / PMID: 22461308). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |
| Daryl Scott Lab, |
RCV000679949 | SCV004102672 | pathogenic | CHARGE syndrome | 2023-11-10 | criteria provided, single submitter | clinical testing |