NM_000199.5(SGSH):c.416C>T (p.Thr139Met) AND Mucopolysaccharidosis, MPS-III-A

Clinical significance:Uncertain significance (Last evaluated: May 4, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000666794.2

Allele description [Variation Report for NM_000199.5(SGSH):c.416C>T (p.Thr139Met)]

NM_000199.5(SGSH):c.416C>T (p.Thr139Met)

Gene:
SGSH:N-sulfoglucosamine sulfohydrolase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_000199.5(SGSH):c.416C>T (p.Thr139Met)
HGVS:
  • NC_000017.11:g.80214705G>A
  • NG_008229.1:g.10696C>T
  • NM_000199.5:c.416C>TMANE SELECT
  • NM_001352921.2:c.416C>T
  • NM_001352922.2:c.416C>T
  • NP_000190.1:p.Thr139Met
  • NP_001339850.1:p.Thr139Met
  • NP_001339851.1:p.Thr139Met
  • NC_000017.10:g.78188504G>A
  • NM_000199.3:c.416C>T
  • NR_148201.2:n.330C>T
Protein change:
T139M
Links:
dbSNP: rs775112689
NCBI 1000 Genomes Browser:
rs775112689
Molecular consequence:
  • NM_000199.5:c.416C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352921.2:c.416C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352922.2:c.416C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148201.2:n.330C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Mucopolysaccharidosis, MPS-III-A (MPS3A)
Synonyms:
SULFAMIDASE DEFICIENCY; Mucopoly-saccharidosis type 3A; Sanfilippo syndrome A; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009655; MedGen: C0086647; Orphanet: 581; Orphanet: 79269; OMIM: 252900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000791150Counsylcriteria provided, single submitter
Uncertain significance
(May 4, 2017)
unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link,

SCV001156105Section for Clinical Neurogenetics,University of Tübingenno assertion criteria providedPathogenic
(Aug 1, 2019)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Novel mutations in Sanfilippo A syndrome: implications for enzyme function.

Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, Hopwood JJ.

Hum Mol Genet. 1997 Sep;6(9):1573-9.

PubMed [citation]
PMID:
9285796

Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.

Sidhu NS, Schreiber K, Pröpper K, Becker S, Usón I, Sheldrick GM, Gärtner J, Krätzner R, Steinfeld R.

Acta Crystallogr D Biol Crystallogr. 2014 May;70(Pt 5):1321-35. doi: 10.1107/S1399004714002739. Epub 2014 Apr 30.

PubMed [citation]
PMID:
24816101
PMCID:
PMC4014121
See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000791150.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Section for Clinical Neurogenetics,University of Tübingen, SCV001156105.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 27, 2021

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