Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)

Help
Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Apr 18, 2019)
Last evaluated:
Jan 1, 2019
Accession:
VCV000523015.6
Variation ID:
523015
Description:
single nucleotide variant
Help

NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)

Allele ID
513649
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q25.3
Genomic location
17: 78188090 (GRCh37) GRCh37 UCSC
17: 80214291 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.78188090G>A
NC_000017.11:g.80214291G>A
NG_008229.1:g.11110C>T
... more HGVS
Protein change
R182C
Other names
-
Canonical SPDI
NC_000017.11:80214290:G:A
Functional consequence
variation affecting protein [Variation Ontology VariO:0002]
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA8817949
dbSNP: rs529855742
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Jan 1, 2019 RCV000626217.5
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SGSH - - GRCh38
GRCh37
410 636

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 18, 2017)
criteria provided, single submitter
Method: clinical testing
None
Allele origin: inherited
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000746862.1
Submitted: (Dec 18, 2017)
Evidence details
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
None
(Autosomal recessive inheritance)
Allele origin: inherited
Center for Medical Genetics,GenVams Trust
Additional submitter:
MedGenome Laboratory Limited,MedGenome
Accession: SCV000897637.1
Submitted: (Apr 03, 2019)
Evidence details
Comment:
The Arg182Cys variant in SGSH has been reported in a hetoroallelic Italian patient. In the patient, the variant caused absence of restriction site of MspA11 … (more)
Likely pathogenic
(Jan 01, 2019)
criteria provided, single submitter
Method: literature only
None
Allele origin: germline
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova
Accession: SCV000929897.1
Submitted: (Apr 18, 2019)
Evidence details
Publications
PubMed (3)
Comment:
PS3: Low in vitro enzymatic activity. PM2: Very low frequency in ExAc

Functional evidence

Help
Functional consequence Method Result Submitter Supporting information
variation affecting protein
Center for Medical Genetics,GenVams Trust
Additional submitter:
MedGenome Laboratory Limited,MedGenome
Accession: SCV000897637.1
Submitted: (Apr 03, 2019)
Evidence details

Citations for this variant

Help
Title Author Journal Year Link
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study. Zanetti A European journal of pediatrics 2019 PMID: 30809705
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations. Beesley CE Journal of medical genetics 2000 PMID: 11182930
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations. Di Natale P Human mutation 1998 PMID: 9554748

Text-mined citations for rs529855742...

Help
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 Sep 29, 2021