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NM_003000.2(SDHB):c.308T>C (p.Met103Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Aug 16, 2017
Accession:
VCV000528728.1
Variation ID:
528728
Description:
single nucleotide variant
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NM_003000.2(SDHB):c.308T>C (p.Met103Thr)

Allele ID
515307
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17028715 (GRCh38) GRCh38 UCSC
1: 17355210 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_316t1:c.308T>C LRG_316p1:p.Met103Thr
LRG_316:g.30456T>C
NC_000001.10:g.17355210A>G
... more HGVS
Protein change
M103T
Other names
-
Canonical SPDI
NC_000001.11:17028714:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA338275056
dbSNP: rs1553177765
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 16, 2017 RCV000633951.1
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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
Uncertain significance
(Aug 16, 2017)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV000755224.1
Submitted: (Apr 02, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces methionine with threonine at codon 103 of the SDHB protein (p.Met103Thr). The methionine 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
Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy. Helman G Annals of neurology 2016 PMID: 26642834

Text-mined citations for rs1553177765...

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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