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.675C>G (p.Phe225Leu)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jul 10, 2018)
Last evaluated:
Dec 1, 2017
Accession:
VCV000235357.2
Variation ID:
235357
Description:
single nucleotide variant
Help

NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)

Allele ID
237044
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q25.3
Genomic location
17: 80213874 (GRCh38) GRCh38 UCSC
17: 78187673 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.78187673G>C
NC_000017.11:g.80213874G>C
NG_008229.1:g.11527C>G
... more HGVS
Protein change
F225L
Other names
-
Canonical SPDI
NC_000017.11:80213873:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00699 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Links
ClinGen: CA8817846
dbSNP: rs34520362
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Nov 24, 2015 RCV000224603.2
Uncertain significance 1 criteria provided, single submitter Dec 1, 2017 RCV000675098.1
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
(Nov 24, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000280872.2
Submitted: (Oct 05, 2017)
Evidence details
Uncertain significance
(Dec 01, 2017)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-A
Allele origin: unknown
Counsyl
Accession: SCV000800631.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Héron B American journal of medical genetics. Part A 2011 PMID: 21204211

Text-mined citations for rs34520362...

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