NM_182760.3(SUMF1):c.2T>G (p.Met1Arg) AND Multiple sulfatase deficiency

Clinical significance:Pathogenic (Last evaluated: May 16, 2003)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000002792.3

Allele description [Variation Report for NM_182760.3(SUMF1):c.2T>G (p.Met1Arg)]

NM_182760.3(SUMF1):c.2T>G (p.Met1Arg)

Gene:
SUMF1:sulfatase modifying factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p26.1
Genomic location:
Preferred name:
NM_182760.3(SUMF1):c.2T>G (p.Met1Arg)
HGVS:
  • NC_000003.12:g.4467244A>C
  • NG_016225.1:g.5039T>G
  • NM_182760.3:c.2T>G
  • NP_877437.2:p.Met1Arg
  • NC_000003.11:g.4508928A>C
Protein change:
M1R; MET1ARG
Links:
OMIM: 607939.0011; dbSNP: rs137852851
NCBI 1000 Genomes Browser:
rs137852851
Molecular consequence:
  • NM_182760.3:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Multiple sulfatase deficiency (MSD)
Synonyms:
Multiple Sulfatase Deficiency Disease; Sulfatidosis, Juvenile, Austin Type
Identifiers:
MedGen: C0268263; Orphanet: 585; OMIM: 272200

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000022950OMIMno assertion criteria providedPathogenic
(May 16, 2003)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

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, SCV000022950.2

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

Description

In a patient with multiple sulfatase deficiency (MSD; 272200), Cosma et al. (2003) identified compound heterozygosity for a T-to-G transversion at nucleotide 2 of the SUMF1 gene, resulting in substitution of the initiator met codon, met1 to arg (M1R). The second mutation was a frameshift deletion of 1 bp (C) at nucleotide 276, resulting in a truncated protein (607939.0012).

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

Last Updated: Jul 21, 2018