Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000412414 | SCV000487871 | uncertain significance | Paragangliomas 4 | 2015-12-04 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000465994 | SCV000554031 | uncertain significance | Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma | 2024-01-12 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 237 of the SDHB protein (p.Pro237Ser). This variant is present in population databases (rs186768244, gnomAD 0.1%). This missense change has been observed in individual(s) with paraganglioma (PMID: 23780556). This variant is also known as 843C>T (P236S). ClinVar contains an entry for this variant (Variation ID: 371795). 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 not expected to disrupt SDHB protein function with a negative predictive value of 80%. 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. |
Ambry Genetics | RCV000571866 | SCV000675074 | likely benign | Hereditary cancer-predisposing syndrome | 2019-02-05 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Gene |
RCV001591047 | SCV001814888 | uncertain significance | not provided | 2020-10-21 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in an individual with a personal history of paraganglioma (Sato 2013); Also known as c.843C>T, p.Pro236Ser; This variant is associated with the following publications: (PMID: 23780556) |
Laboratory of Molecular Epidemiology of Birth Defects, |
RCV003153568 | SCV003843824 | benign | Ovarian cancer | 2022-01-01 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000412414 | SCV004045380 | uncertain significance | Paragangliomas 4 | 2023-04-24 | criteria provided, single submitter | clinical testing | This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk. |
Fulgent Genetics, |
RCV005004143 | SCV005631384 | uncertain significance | Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Mitochondrial complex 2 deficiency, nuclear type 4 | 2024-04-11 | criteria provided, single submitter | clinical testing |