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NM_182760.4(SUMF1):c.1006T>C (p.Cys336Arg) AND Multiple sulfatase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 16, 2003
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000002787.4

Allele description [Variation Report for NM_182760.4(SUMF1):c.1006T>C (p.Cys336Arg)]

NM_182760.4(SUMF1):c.1006T>C (p.Cys336Arg)

Gene:
SUMF1:sulfatase modifying factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p26.1
Genomic location:
Preferred name:
NM_182760.4(SUMF1):c.1006T>C (p.Cys336Arg)
HGVS:
  • NC_000003.12:g.4376338A>G
  • NG_016225.2:g.95945T>C
  • NM_001164674.2:c.931T>C
  • NM_001164675.2:c.955-14084T>C
  • NM_182760.4:c.1006T>CMANE SELECT
  • NP_001158146.1:p.Cys311Arg
  • NP_877437.2:p.Cys336Arg
  • NC_000003.11:g.4418022A>G
  • Q8NBK3:p.Cys336Arg
Protein change:
C311R; CYS336ARG
Links:
UniProtKB: Q8NBK3#VAR_016056; OMIM: 607939.0006; dbSNP: rs137852848
NCBI 1000 Genomes Browser:
rs137852848
Molecular consequence:
  • NM_001164675.2:c.955-14084T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001164674.2:c.931T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_182760.4:c.1006T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Multiple sulfatase deficiency (MSD)
Synonyms:
Juvenile sulfatidosis; Mucosulfatidosis; Multiple Sulfatase Deficiency Disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010088; MedGen: C0268263; Orphanet: 585; OMIM: 272200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000022945OMIM
no assertion criteria provided
Pathogenic
(May 16, 2003) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme.

Dierks T, Schmidt B, Borissenko LV, Peng J, Preusser A, Mariappan M, von Figura K.

Cell. 2003 May 16;113(4):435-44.

PubMed [citation]
PMID:
12757705

The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.

Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A.

Cell. 2003 May 16;113(4):445-56.

PubMed [citation]
PMID:
12757706

Details of each submission

From OMIM, SCV000022945.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

For discussion of the cys336-to-arg (C336R) mutation in the SUMF1 gene that was found in compound heterozygous state in patients with multiple sulfatase deficiency (MSD; 272200) by Dierks et al. (2003) and Cosma et al. (2003), see 607939.0005.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022