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NM_182760.4(SUMF1):c.103C>T (p.Gln35Ter) AND Multiple sulfatase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 14, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003606750.2

Allele description [Variation Report for NM_182760.4(SUMF1):c.103C>T (p.Gln35Ter)]

NM_182760.4(SUMF1):c.103C>T (p.Gln35Ter)

Genes:
LOC129936056:ATAC-STARR-seq lymphoblastoid silent region 14016 [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.103C>T (p.Gln35Ter)
HGVS:
  • NC_000003.12:g.4467143G>A
  • NG_016225.2:g.5140C>T
  • NG_016225.3:g.5126C>T
  • NG_169067.1:g.278G>A
  • NM_001164674.2:c.103C>T
  • NM_001164675.2:c.103C>T
  • NM_182760.4:c.103C>TMANE SELECT
  • NP_001158146.1:p.Gln35Ter
  • NP_001158147.1:p.Gln35Ter
  • NP_877437.2:p.Gln35Ter
  • NC_000003.11:g.4508827G>A
Protein change:
Q35*
Molecular consequence:
  • NM_001164674.2:c.103C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001164675.2:c.103C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_182760.4:c.103C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV004520408Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jun 14, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

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
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004520408.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SUMF1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln35*) in the SUMF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SUMF1 are known to be pathogenic (PMID: 12757705, 12757706, 25885655).

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

Last Updated: Sep 29, 2024