Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001922428 | SCV002170404 | uncertain significance | Schimke immuno-osseous dysplasia | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with aspartic acid at codon 142 of the SMARCAL1 protein (p.Glu142Asp). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs767158204, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with SMARCAL1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV001922428 | SCV002780493 | uncertain significance | Schimke immuno-osseous dysplasia | 2021-12-16 | criteria provided, single submitter | clinical testing |