ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.716C>G (p.Ser239Cys) (rs201098090)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795778 SCV000935252 uncertain significance Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 2018-10-04 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 239 of the SDHB protein (p.Ser239Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is present in population databases (rs201098090, ExAC 0.02%). This variant has been observed in an individual affected with pheochromocytoma (PMID: 22270996). ClinVar contains an entry for this variant (Variation ID: 161385). 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 disruptive, 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.
CSER _CC_NCGL, University of Washington RCV000148869 SCV000190613 uncertain significance Pheochromocytoma 2014-06-01 no assertion criteria provided research

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