Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000553951 | SCV000658951 | pathogenic | Treacher Collins syndrome 1 | 2023-08-30 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 477616). This sequence change creates a premature translational stop signal (p.Ser762*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Treacher-Collins syndrome (PMID: 21951868, 22317976, 32909271). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV001008035 | SCV001167768 | pathogenic | not provided | 2017-06-23 | criteria provided, single submitter | clinical testing | The c.2285_2286delCT pathogenic variant in the TCOF1 gene has been reported previously in association with Treacher Collins syndrome (Conte et al., 2011). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. |