Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000698090 | SCV000826733 | pathogenic | Treacher Collins syndrome 1 | 2022-10-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 575776). This variant is also known as 3987_3988insG. This premature translational stop signal has been observed in individual(s) with Treacher Collins syndrome (PMID: 11013442, 15340364, 22317976). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1407Valfs*23) in the TCOF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TCOF1 are known to be pathogenic (PMID: 8894686, 22317976). |
Gene |
RCV001559961 | SCV001782289 | pathogenic | not provided | 2020-06-19 | 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: 33332773, 15340364, 11013442, 20003452, 22317976) |
Biochemical Molecular Genetic Laboratory, |
RCV000698090 | SCV001469278 | pathogenic | Treacher Collins syndrome 1 | 2020-08-07 | no assertion criteria provided | clinical testing |