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NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Jan 1, 1993
Accession:
VCV000000897.1
Variation ID:
897
Description:
single nucleotide variant
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NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp)

Allele ID
15936
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q11.21
Genomic location
7: 65961022 (GRCh38) GRCh38 UCSC
7: 65426009 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P08236:p.Arg611Trp
NC_000007.13:g.65426009G>A
NM_000181.4:c.1831C>T MANE Select NP_000172.2:p.Arg611Trp missense
... more HGVS
Protein change
R611W, R392W, R421W, R465W
Other names
-
Canonical SPDI
NC_000007.14:65961021:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA339841
UniProtKB: P08236#VAR_003199
OMIM: 611499.0005
dbSNP: rs121918176
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Jan 1, 1993 RCV000000945.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GUSB - - GRCh38
GRCh37
172 193

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Jan 01, 1993)
no assertion criteria provided
Method: literature only
MUCOPOLYSACCHARIDOSIS, TYPE VII
Affected status: not provided
Allele origin: germline
OMIM
Accession: SCV000021095.3
Submitted: (Dec 30, 2010)
Publications:
PubMed (1)
PubMed: 8111413
Comment on evidence:
For discussion of the arg611-to-trp (R611W) mutation in the GUSB gene that was found in compound heterozygous state in a patient with severe mucopolysaccharidosis type … (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
Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII. Wu BM Human mutation 1993 PMID: 8111413

Text-mined citations for rs121918176...

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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 Nov 27, 2021