NM_003000.3(SDHB):c.769C>G (p.Leu257Val) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 4, 2025
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002268269.7

Allele description [Variation Report for NM_003000.3(SDHB):c.769C>G (p.Leu257Val)]

NM_003000.3(SDHB):c.769C>G (p.Leu257Val)

Gene:

SDHB:succinate dehydrogenase complex iron sulfur subunit B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.13

Genomic location:

Preferred name:

NM_003000.3(SDHB):c.769C>G (p.Leu257Val)

HGVS:

NC_000001.11:g.17018955G>C
NG_012340.1:g.40216C>G
NM_003000.3:c.769C>GMANE SELECT
NP_002991.2:p.Leu257Val
NP_002991.2:p.Leu257Val
LRG_316t1:c.769C>G
LRG_316:g.40216C>G
LRG_316p1:p.Leu257Val
NC_000001.10:g.17345450G>C
NM_003000.2:c.769C>G

Protein change:

L257V; LEU257VAL

Links:

OMIM: 185470.0022; dbSNP: rs761350633

NCBI 1000 Genomes Browser:

rs761350633

Molecular consequence:

NM_003000.3:c.769C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002552218	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 4, 2025)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 22972948, 27604842, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002552218

Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 4, 2025)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.

Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW.

J Med Genet. 2012 Sep;49(9):569-77. doi: 10.1136/jmedgenet-2012-101146.

PubMed [citation]

PMID:: 22972948
PMCID:: PMC3500770

Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.

Grønborg S, Darin N, Miranda MJ, Damgaard B, Cayuela JA, Oldfors A, Kollberg G, Hansen TVO, Ravn K, Wibrand F, Østergaard E.

JIMD Rep. 2017;33:69-77. doi: 10.1007/8904_2016_582. Epub 2016 Sep 8.

PubMed [citation]

PMID:: 27604842
PMCID:: PMC5413450

See all PubMed Citations (3)

Details of each submission

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002552218.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 25, 2025

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