ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.709C>T (p.Pro237Ser)

gnomAD frequency: 0.00004  dbSNP: rs186768244
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Total submissions: 7
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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 (formerly Invitae), Labcorp 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.
GeneDx 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, West China Second University Hospital, Sichuan University RCV003153568 SCV003843824 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. 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, 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

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