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NM_003073.5(SMARCB1):c.1142C>G (p.Thr381Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jul 4, 2021)
Last evaluated:
Jan 9, 2020
Accession:
VCV000623977.9
Variation ID:
623977
Description:
single nucleotide variant
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NM_003073.5(SMARCB1):c.1142C>G (p.Thr381Arg)

Allele ID
613186
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q11.23
Genomic location
22: 23834164 (GRCh38) GRCh38 UCSC
22: 24176351 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.24176351C>G
NC_000022.11:g.23834164C>G
NM_003073.5:c.1142C>G MANE Select NP_003064.2:p.Thr381Arg missense
... more HGVS
Protein change
T381R, T372R, T399R, T390R
Other names
-
Canonical SPDI
NC_000022.11:23834163:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1387467529
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jan 9, 2020 RCV000762051.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SMARCB1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
501 618

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 09, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001205521.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces threonine with arginine at codon 381 of the SMARCB1 protein (p.Thr381Arg). The threonine residue is highly conserved and there is a … (more)
Likely pathogenic
(Aug 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000892298.7
Submitted: (Jul 04, 2021)
Evidence details

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
Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome. Johann PD Brain pathology (Zurich, Switzerland) 2017 PMID: 27380723

Text-mined citations for rs1387467529...

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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 Jul 10, 2021