ClinVar Miner

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

dbSNP: rs74315369
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Total submissions: 8
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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, Mass General Brigham 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000477264 SCV000554024 likely benign Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2025-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000492780 SCV000581202 benign Hereditary cancer-predisposing syndrome 2016-09-30 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV001527323 SCV001738291 uncertain significance not provided 2024-05-06 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: 25637381, 28873162, 29386252, 21979946)
Myriad Genetics, Inc. RCV000408969 SCV004045373 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.
Baylor Genetics RCV003474796 SCV004202996 uncertain significance Gastrointestinal stromal tumor 2024-03-19 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148870 SCV000190614 uncertain significance Pheochromocytoma 2014-06-01 no assertion criteria provided research

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