ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.79C>G (p.Arg27Gly) (rs74315369)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000408969 SCV000487820 uncertain significance Paragangliomas 4 2015-11-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455540 SCV000540304 uncertain significance not specified 2016-08-12 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1 proband; ClinVar: 1 VUS
Invitae RCV000477264 SCV000554024 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2020-11-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 27 of the SDHB protein (p.Arg27Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs74315369, ExAC 0.008%). This variant has been reported in an individual affected with breast cancer and thyroid lesions (PMID: 21979946). ClinVar contains an entry for this variant (Variation ID: 161386). 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 RCV000492780 SCV000581202 benign Hereditary cancer-predisposing syndrome 2016-09-30 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;In silico models in agreement (benign);Other data supporting benign classification;Subpopulation frequency in support of benign classification
GeneDx RCV001527323 SCV001738291 uncertain significance not provided 2020-02-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function This variant is associated with the following publications: (PMID: 21979946, 29386252, 28873162, 25637381)
CSER _CC_NCGL, University of Washington RCV000148870 SCV000190614 uncertain significance Pheochromocytoma 2014-06-01 no assertion criteria provided research

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