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NM_000263.3(NAGLU):c.-144G>A AND Sanfilippo syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000317108.14

Allele description [Variation Report for NM_000263.3(NAGLU):c.-144G>A]

NM_000263.3(NAGLU):c.-144G>A

Gene:
NAGLU:N-acetyl-alpha-glucosaminidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000263.3(NAGLU):c.-144G>A
HGVS:
  • NC_000017.11:g.42536129G>A
  • NG_011552.1:g.5197G>A
  • NG_196152.1:g.276G>A
  • NG_196153.1:g.86G>A
  • NM_000263.3:c.-144G>A
  • NC_000017.10:g.40688147G>A
Links:
dbSNP: rs538885425
NCBI 1000 Genomes Browser:
rs538885425

Condition(s)

Name:
Sanfilippo syndrome
Synonyms:
Mucopolysaccharidosis Type III; Mucopolysaccharidosis type 3; Sanfilippo disease
Identifiers:
MONDO: MONDO:0018937; MedGen: C0026706

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000402895Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000402895.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 5, 2025