Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001383031 | SCV001582039 | pathogenic | Treacher Collins syndrome 1 | 2020-03-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TCOF1 are known to be pathogenic (PMID: 8894686, 22317976). This variant has been observed in individual(s) with Treacher Collins syndrome (PMID: 12114482, 20003452, 22317976, 24994558). In at least one individual the variant was observed to be de novo. This variant is also known as c.1872_1875delTGAG in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser701Argfs*9) in the TCOF1 gene. It is expected to result in an absent or disrupted protein product. |
Gene |
RCV002281186 | SCV002569615 | pathogenic | not provided | 2022-03-08 | criteria provided, single submitter | clinical testing | Identified in a patients with Treacher Collins syndrome in published literature, described as c.1872_1875delTGAG using alternate nomenclature in some cases, however, detailed clinical information is not available (Splendore et al., 2002; Masotti et al., 2009; Bowman et al., 2012; Wang et al., 2014); 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22317976, 20003452, 12114482, 24994558) |