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NM_000181.4(GUSB):c.695C>G (p.Thr232Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 20, 2020)
Last evaluated:
Nov 4, 2019
Accession:
VCV000908807.2
Variation ID:
908807
Description:
single nucleotide variant
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NM_000181.4(GUSB):c.695C>G (p.Thr232Ser)

Allele ID
898292
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q11.21
Genomic location
7: 65979428 (GRCh38) GRCh38 UCSC
7: 65444415 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.65444415G>C
NC_000007.14:g.65979428G>C
NG_016197.1:g.7887C>G
... more HGVS
Protein change
T232S, T42S
Other names
-
Canonical SPDI
NC_000007.14:65979427:G:C
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
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Nov 4, 2019 RCV001159487.2
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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
168 189

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis type 7
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001321204.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Nov 04, 2019)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis type 7
Allele origin: germline
Invitae
Accession: SCV001399556.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces threonine with serine at codon 232 of the GUSB protein (p.Thr232Ser). The threonine residue is moderately conserved and there is a … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021