NM_000199.5(SGSH):c.630G>A (p.Trp210Ter) AND Mucopolysaccharidosis, MPS-III-A

Clinical significance:Pathogenic (Last evaluated: Apr 21, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001385410.1

Allele description [Variation Report for NM_000199.5(SGSH):c.630G>A (p.Trp210Ter)]

NM_000199.5(SGSH):c.630G>A (p.Trp210Ter)

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.630G>A (p.Trp210Ter)
HGVS:
  • NC_000017.11:g.80214205C>T
  • NG_008229.1:g.11196G>A
  • NM_000199.5:c.630G>AMANE SELECT
  • NM_001352921.3:c.630G>A
  • NM_001352922.2:c.630G>A
  • NP_000190.1:p.Trp210Ter
  • NP_001339850.1:p.Trp210Ter
  • NP_001339851.1:p.Trp210Ter
  • NC_000017.10:g.78188004C>T
  • NR_148201.2:n.544G>A
Protein change:
W210*
Molecular consequence:
  • NR_148201.2:n.544G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000199.5:c.630G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352921.3:c.630G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352922.2:c.630G>A - nonsense - [Sequence Ontology: SO:0001587]

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

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
SCV001585246Invitaecriteria provided, single submitter
Pathogenic
(Apr 21, 2020)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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

Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.

Beesley CE, Young EP, Vellodi A, Winchester BG.

J Med Genet. 2000 Sep;37(9):704-7. No abstract available.

PubMed [citation]
PMID:
11182930
PMCID:
PMC1734705
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV001585246.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This sequence change creates a premature translational stop signal (p.Trp210*) in the SGSH gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs373031930, ExAC 0.002%). This nonsense change has been observed in individual(s) with Sanfilippo syndrome (PMID: 9285796). Loss-of-function variants in SGSH are known to be pathogenic (PMID: 11182930, 21204211, 22976768). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: May 14, 2021

Support Center