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NM_014140.4(SMARCAL1):c.1000C>T (p.Arg334Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 8, 2020
Accession:
VCV001073208.1
Variation ID:
1073208
Description:
single nucleotide variant
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NM_014140.4(SMARCAL1):c.1000C>T (p.Arg334Ter)

Allele ID
1059172
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 216420436 (GRCh38) GRCh38 UCSC
2: 217285159 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_108:g.13023C>T
NC_000002.11:g.217285159C>T
NC_000002.12:g.216420436C>T
... more HGVS
Protein change
R334*
Other names
-
Canonical SPDI
NC_000002.12:216420435:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Jan 8, 2020 RCV001386132.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SMARCAL1 - - GRCh38
GRCh37
465 488

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 08, 2020)
criteria provided, single submitter
Method: clinical testing
Schimke immuno-osseous dysplasia
Allele origin: germline
Invitae
Accession: SCV001586258.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change creates a premature translational stop signal (p.Arg334*) in the SMARCAL1 gene. It is expected to result in an absent or disrupted protein … (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
Schimke Immunoosseous Dysplasia Morimoto M - 2016 PMID: 20301550
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? Morimoto M Orphanet journal of rare diseases 2012 PMID: 22998683
Schimke immunoosseous dysplasia: suggestions of genetic diversity. Clewing JM Human mutation 2007 PMID: 17089404
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Boerkoel CF Nature genetics 2002 PMID: 11799392

Record last updated Oct 08, 2021