Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000534904 | SCV000657544 | pathogenic | TWIST1-related craniosynostosis | 2021-12-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg183*) in the ERF gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 366 amino acid(s) of the ERF protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ERF protein in which other variant(s) (p.Gly299Argfs*9) have been determined to be pathogenic (PMID: 23354439). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 55923). This premature translational stop signal has been observed in individual(s) with clinical features of ERF-related conditions (PMID: 23354439). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). |
Fulgent Genetics, |
RCV000763434 | SCV000894200 | pathogenic | Craniosynostosis 4; Chitayat syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000049336 | SCV000081768 | pathogenic | Craniosynostosis 4 | 2013-03-01 | no assertion criteria provided | literature only |