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NM_000181.4(GUSB):c.1856C>T (p.Ala619Val)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 27, 2020
Accession:
VCV000000893.2
Variation ID:
893
Description:
single nucleotide variant
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NM_000181.4(GUSB):c.1856C>T (p.Ala619Val)

Allele ID
15932
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q11.21
Genomic location
7: 65960997 (GRCh38) GRCh38 UCSC
7: 65425984 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P08236:p.Ala619Val
NC_000007.13:g.65425984G>A
NC_000007.14:g.65960997G>A
... more HGVS
Protein change
A619V, A400V, A429V, A473V
Other names
-
Canonical SPDI
NC_000007.14:65960996:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD) 0.00004
Links
ClinGen: CA339838
UniProtKB: P08236#VAR_003200
OMIM: 611499.0001
dbSNP: rs121918172
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Jan 27, 2020 RCV000000941.4
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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 Supporting information
Pathogenic
(Jan 27, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis type 7
Allele origin: germline
Invitae
Accession: SCV001589359.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces alanine with valine at codon 619 of the GUSB protein (p.Ala619Val). The alanine residue is highly conserved and there is a … (more)
Pathogenic
(Jan 01, 1991)
no assertion criteria provided
Method: literature only
MUCOPOLYSACCHARIDOSIS, TYPE VII
Allele origin: germline
OMIM
Accession: SCV000021091.2
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
Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII. Kantaputra PN American journal of medical genetics. Part A 2019 PMID: 30653816
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). Tomatsu S Human mutation 2009 PMID: 19224584
Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site. Yamada S Human molecular genetics 1995 PMID: 7633414
Molecular analysis of mucopolysaccharidosis type VII. Fukuda S Journal of inherited metabolic disease 1991 PMID: 1779626
Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity. Tomatsu S American journal of human genetics 1991 PMID: 1702266
Molecular basis of mucopolysaccharidosis type VII: replacement of Ala619 in beta-glucuronidase with Val. Tomatsu S Gene 1990 PMID: 2115490

Text-mined citations for rs121918172...

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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