U.S. flag

An official website of the United States government

NM_000199.5(SGSH):c.734G>A (p.Arg245His) AND Sanfilippo syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 26, 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:
RCV000348775.10

Allele description [Variation Report for NM_000199.5(SGSH):c.734G>A (p.Arg245His)]

NM_000199.5(SGSH):c.734G>A (p.Arg245His)

Genes:
CARD14:caspase recruitment domain family member 14 [Gene - OMIM - HGNC]
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.734G>A (p.Arg245His)
HGVS:
  • NC_000017.11:g.80213815C>T
  • NG_008229.1:g.11586G>A
  • NM_000199.5:c.734G>AMANE SELECT
  • NM_001352921.3:c.734G>A
  • NM_001352922.2:c.734G>A
  • NP_000190.1:p.Arg245His
  • NP_000190.1:p.Arg245His
  • NP_001339850.1:p.Arg245His
  • NP_001339851.1:p.Arg245His
  • NC_000017.10:g.78187614C>T
  • NM_000199.3:c.734G>A
  • NM_000199.4:c.734G>A
  • NR_148201.2:n.648G>A
  • P51688:p.Arg245His
Protein change:
R245H; ARG245HIS
Links:
UniProtKB: P51688#VAR_007411; OMIM: 605270.0001; dbSNP: rs104894635
NCBI 1000 Genomes Browser:
rs104894635
Molecular consequence:
  • NM_000199.5:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352921.3:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352922.2:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148201.2:n.648G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Sanfilippo syndrome
Synonyms:
Mucopolysaccharidosis type III; Mucopoly-saccharidosis type 3; Mucopolysaccharidosis type 3; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018937; MedGen: C0026706

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000695960Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Jun 26, 2016) 		germlineclinical testing

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

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Molecular defects in Sanfilippo syndrome type A.

Blanch L, Weber B, Guo XH, Scott HS, Hopwood JJ.

Hum Mol Genet. 1997 May;6(5):787-91.

PubMed [citation]
PMID:
9158154

Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands.

Weber B, van de Kamp JJ, Kleijer WJ, Guo XH, Blanch L, van Diggelen OP, Wevers R, Poorthuis BJ, Hopwood JJ.

J Inherit Metab Dis. 1998 Jun;21(4):416-22.

PubMed [citation]
PMID:
9700599

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000695960.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: The SGSH c.734G>A (p.Arg245His) variant causes a missense change involving a conserved nucleotide with 4/4 in silico tools (SNPs&GO not captured due to low reliability index) predicting a damaging outcome. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 30/72670 (1/2422), which does not exceed the estimated maximal expected allele frequency for a pathogenic SGSH variant of 1/309. The variant of interest has been reported in multiple affected individuals as homozygotes and compound heterozygotes via publications. In addition, multiple reputable databases/clinical laboratories cite the variant as "pathogenic." Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Pathogenic.

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

Last Updated: May 12, 2024