Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001381083 | SCV001579335 | pathogenic | Treacher Collins syndrome 1 | 2020-08-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys502Ilefs*48) in the TCOF1 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 Treacher Collins syndrome 1 (Invitae). Loss-of-function variants in TCOF1 are known to be pathogenic (PMID: 8894686, 22317976). For these reasons, this variant has been classified as Pathogenic. |