ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.65G>C (p.Cys22Ser) (rs141230910)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573095 SCV000675060 likely benign Hereditary cancer-predisposing syndrome 2016-12-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000596063 SCV000702012 uncertain significance not provided 2016-10-24 criteria provided, single submitter clinical testing
Invitae RCV000206152 SCV000261872 uncertain significance Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 2018-12-11 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 22 of the SDHB protein (p.Cys22Ser). The cysteine residue is weakly conserved and there is a moderate physicochemical difference between cysteine and serine. This variant is present in population databases (rs141230910, ExAC 0.1%). This variant has been observed in an individual affected with paraganglioma (PMID: 26273102) and in individuals referred for genetic testing for a personal or family history of phaeochromocytoma/paraganglioma (PMID: 29386252). ClinVar contains an entry for this variant (Variation ID: 220915). 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.

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