Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000708779 | SCV000837727 | uncertain significance | Cowden syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000819850 | SCV000960532 | uncertain significance | Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma | 2023-02-14 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with clinical features of mitochondrial complex II deficiency (PMID: 27604842, 34490615). 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 SDHB protein function. ClinVar contains an entry for this variant (Variation ID: 584582). This variant is present in population databases (rs761350633, gnomAD 0.0009%). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 257 of the SDHB protein (p.Leu257Val). |
Center for Genomic Medicine, |
RCV002268269 | SCV002552218 | pathogenic | not provided | 2023-08-15 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001310279 | SCV001500012 | pathogenic | Mitochondrial complex 2 deficiency, nuclear type 4 | 2021-03-08 | no assertion criteria provided | literature only |