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NM_003002.4(SDHD):c.191_192del (p.Leu64fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Nov 30, 2020)
Last evaluated:
Oct 17, 2018
Accession:
VCV000006904.7
Variation ID:
6904
Description:
2bp microsatellite
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NM_003002.4(SDHD):c.191_192del (p.Leu64fs)

Allele ID
21943
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
11q23.1
Genomic location
11: 112088884-112088885 (GRCh38) GRCh38 UCSC
11: 111959608-111959609 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_9:g.7038TC[2]
LRG_9t1:c.191_192del LRG_9p1:p.Leu64fs
NC_000011.10:g.112088884TC[2]
... more HGVS
Protein change
L64fs, L25fs
Other names
-
Canonical SPDI
NC_000011.10:112088883:TCTCTC:TCTC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA016671
OMIM: 602690.0013
dbSNP: rs387906358
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 Jul 25, 2016 RCV000481193.1
Pathogenic 1 criteria provided, single submitter Dec 1, 2017 RCV000641035.1
Pathogenic 1 criteria provided, single submitter Oct 17, 2018 RCV001013655.1
Pathogenic 1 no assertion criteria provided Jul 1, 2001 RCV000007313.6
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SDHD Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
421 438

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 01, 2017)
criteria provided, single submitter
Method: clinical testing
Carney-Stratakis syndrome
Paragangliomas 1
Pheochromocytoma
Cowden syndrome 3
Allele origin: germline
Invitae
Accession: SCV000762653.1
Submitted: (Apr 02, 2018)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change creates a premature translational stop signal (p.Leu64Profs*4) in the SDHD gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Jul 25, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000568556.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This deletion of two nucleotides in SDHD is denoted c.191_192delTC at the cDNA level and p.Leu64ProfsX4 (L64PfsX4) at the protein level. The normal sequence, with … (more)
Pathogenic
(Oct 17, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001174270.2
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (11)
Comment:
The c.191_192delTC variant, located in coding exon 3 of the SDHD gene, results from a deletion of two nucleotides at nucleotide positions 191 to 192, … (more)
Pathogenic
(Jul 01, 2001)
no assertion criteria provided
Method: literature only
PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS
Allele origin: germline
OMIM
Accession: SCV000027510.4
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes <i>SDHB</i>, <i>SDHC</i> and <i>SDHD</i>. Andrews KA Journal of medical genetics 2018 PMID: 29386252
Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients. Currás-Freixes M Journal of medical genetics 2015 PMID: 26269449
Identification of somatic VHL gene mutations in sporadic head and neck paragangliomas in association with activation of the HIF-1α/miR-210 signaling pathway. Merlo A The Journal of clinical endocrinology and metabolism 2013 PMID: 23902947
Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways. de Cubas AA Endocrine-related cancer 2013 PMID: 23660872
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma. Jafri M Clinical endocrinology 2013 PMID: 23072324
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. Burnichon N The Journal of clinical endocrinology and metabolism 2009 PMID: 19454582
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
Genetics of pheochromocytoma and paraganglioma in Spanish patients. Cascón A The Journal of clinical endocrinology and metabolism 2009 PMID: 19258401
Genetic testing in pheochromocytoma or functional paraganglioma. Amar L Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2005 PMID: 16314641
The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features. Badenhop RF Journal of medical genetics 2004 PMID: 15235042
Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. Badenhop RF Genes, chromosomes & cancer 2001 PMID: 11391796

Text-mined citations for rs387906358...

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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