ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.709C>T (p.Pro237Ser) (rs186768244)

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Total submissions: 3
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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
Invitae RCV000465994 SCV000554031 uncertain significance Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 2018-11-29 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 237 of the SDHB protein (p.Pro237Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs186768244, ExAC 0.09%). This variant has been reported in an individual affected with paraganglioma (PMID: 23780556). This variant is also known as 843C>T (P236S) in the literature. ClinVar contains an entry for this variant (Variation ID: 371795). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)

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