Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pediatrics Genetics, |
RCV001004058 | SCV001147063 | likely pathogenic | Hyaline fibromatosis syndrome | 2019-09-24 | criteria provided, single submitter | clinical testing | A single base pair duplication in exon 9 of the ANTXR2 gene (chr4:g.80954652dupT; Depth: 57x) that results in a stop codon and premature truncation of the protein at codon 257 (p.Tyr257Ter; ENST00000307333.7) was detected. This ANTXR2 variant has not been reported in the 1000 Genomes, ExAC and our internal databases. The in silico prediction of the variant is damaging by MutationTaster2. The reference codon is conserved across species. |