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NM_003000.2(SDHB):c.689G>T (p.Arg230Leu)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 24, 2020
Accession:
VCV000184933.7
Variation ID:
184933
Description:
single nucleotide variant
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NM_003000.2(SDHB):c.689G>T (p.Arg230Leu)

Allele ID
181607
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17022684 (GRCh38) GRCh38 UCSC
1: 17349179 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_316t1:c.689G>T LRG_316p1:p.Arg230Leu
LRG_316:g.36487G>T
NC_000001.10:g.17349179C>A
... more HGVS
Protein change
R230L
Other names
-
Canonical SPDI
NC_000001.11:17022683:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA016097
dbSNP: rs587782604
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Mar 31, 2020 RCV000164275.3
Pathogenic 1 criteria provided, single submitter Jul 24, 2020 RCV000473831.6
Pathogenic 1 criteria provided, single submitter Aug 23, 2017 RCV000522081.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SDHB Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
789 819

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 31, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000214900.6
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (5)
Comment:
The p.R230L pathogenic mutation (also known as c.689G>T), located in coding exon 7 of the SDHB gene, results from a G to T substitution at … (more)
Pathogenic
(Aug 23, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000616874.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R230L variant in the SDHB gene has previously been reported in multiple individuals with paraganglioma and/or other features suspicious for hereditary paraganglioma-pheochromocytoma syndrome (for … (more)
Pathogenic
(Jul 24, 2020)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV000554032.6
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (9)
Comment:
This sequence change replaces arginine with leucine at codon 230 of the SDHB protein (p.Arg230Leu). The arginine residue is highly conserved and there is a … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma. Pandit R European journal of endocrinology 2016 PMID: 27539324
Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum. Niemeijer ND The Journal of clinical endocrinology and metabolism 2015 PMID: 26259135
Usefulness of Somatostatin Receptor Scintigraphy (Tc-[HYNIC, Tyr3]-Octreotide) and 123I-Metaiodobenzylguanidine Scintigraphy in Patients with SDHx Gene-Related Pheochromocytomas and Paragangliomas Detected by Computed Tomography. Michałowska I Neuroendocrinology 2015 PMID: 25791839
SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma. Menara M The Journal of clinical endocrinology and metabolism 2015 PMID: 25405498
Role of rapid sequence whole-body MRI screening in SDH-associated hereditary paraganglioma families. Jasperson KW Familial cancer 2014 PMID: 23934599
Mutation of SDHB is a cause of hypoxia-related high-altitude paraganglioma. Cerecer-Gil NY Clinical cancer research : an official journal of the American Association for Cancer Research 2010 PMID: 20592014
Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. Neumann HP Cancer research 2009 PMID: 19351833
Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas. Klein RD Diagnostic molecular pathology : the American journal of surgical pathology, part B 2008 PMID: 18382370
High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing. Brouwers FM The Journal of clinical endocrinology and metabolism 2006 PMID: 16912137

Text-mined citations for rs587782604...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021