Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000255893 | SCV000322268 | pathogenic | not provided | 2020-01-10 | criteria provided, single submitter | clinical testing | Frameshift 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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31146700, 22461308, 33502061) |
Invitae | RCV001234008 | SCV001406633 | pathogenic | CHARGE association | 2021-12-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr2056Profs*3) in the CHD7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHD7 are known to be pathogenic (PMID: 22461308, 25077900). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with CHARGE syndrome and/or multiple congenital anomalies (PMID: 22461308, 33502061). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 265405). For these reasons, this variant has been classified as Pathogenic. |