NM_000199.3(SGSH):c.1339G>A (p.Glu447Lys) AND Sanfilippo syndrome

Clinical significance:Likely pathogenic (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000351557.1

Allele description

NM_000199.3(SGSH):c.1339G>A (p.Glu447Lys)

Gene:
SGSH:N-sulfoglucosamine sulfohydrolase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_000199.3(SGSH):c.1339G>A (p.Glu447Lys)
HGVS:
  • NC_000017.11:g.80210622C>T
  • NG_008229.1:g.14779G>A
  • NM_000199.3:c.1339G>A
  • NP_000190.1:p.Glu447Lys
  • NC_000017.10:g.78184421C>T
  • P51688:p.Glu447Lys
Protein change:
E447K; GLU447LYS
Links:
UniProtKB: P51688#VAR_007423; OMIM: 605270.0006; dbSNP: rs104894639
NCBI 1000 Genomes Browser:
rs104894639
Allele Frequency:
0.00003(T)
Molecular consequence:
  • NM_000199.3:c.1339G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Sanfilippo syndrome
Identifiers:
MedGen: C0026706

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000407341Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely pathogenic
(Jun 14, 2016)
germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Citations

PubMed

Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.

Yogalingam G, Hopwood JJ.

Hum Mutat. 2001 Oct;18(4):264-81. Review.

PubMed [citation]
PMID:
11668611

Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis.

Mu TW, Fowler DM, Kelly JW.

PLoS Biol. 2008 Feb;6(2):e26. doi: 10.1371/journal.pbio.0060026.

PubMed [citation]
PMID:
18254660
PMCID:
PMC2225441
See all PubMed Citations (8)

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000407341.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

The c.1339G>A (p.Glu447Lys) variant has been reported in three studies and is found in a total of five patients with mucopolysaccharidosis type III, including two in a homozygous state and three in a compound heterozygous state (including two siblings who carried a canonical splice site (donor) variant on the second allele) (Blanch et al. 1997; Chabás et al. 2001; Shapiro et al. 2016). The p.Glu447Lys variant was absent from 120 control alleles but is reported at a frequency of 0.00002 in the Total population of the Exome Aggregation Consortium. Based on the evidence, the p.Glu447Lys variant is classified as likely pathogenic for mucopolysaccharidosis, type III.

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

Last Updated: May 3, 2018