Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001374389 | SCV001554652 | pathogenic | Zimmermann-laband syndrome 3 | 2020-11-18 | criteria provided, single submitter | clinical testing | We identified a de novo variant Ala536Thr in monozygotic twins who were presented with clinical symptoms of Zimmerman-Laband syndrome. There was no evidence for mosaicism in healthy family members. The variant is not present in population databases (GnomAD, ExAC, 1000G). The locus is highly conserved in evolution: PhyloP 5,77; PhasCons 1. In silico predictors - SIFT, DANN, and Mutation Taster predicted a deleterious effect on protein structure. According to ACMG criteria, we classified the variant as pathogenic. |