Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001944308 | SCV002214704 | uncertain significance | Gastrointestinal stromal tumor; Paragangliomas 3 | 2021-06-14 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with SDHC-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SDHC protein function. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with valine at codon 132 of the SDHC protein (p.Ile132Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. |