NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Jun 16, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001366744.1

Allele description [Variation Report for NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys)]

NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys)

Gene:
HGSNAT:heparan-alpha-glucosaminide N-acetyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p11.21
Genomic location:
Preferred name:
NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys)
HGVS:
  • NC_000008.11:g.43197842C>G
  • NG_009552.1:g.62394C>G
  • NM_001363227.2:c.1703C>G
  • NM_001363228.2:c.1424C>G
  • NM_001363229.2:c.752C>G
  • NM_152419.3:c.1616C>GMANE SELECT
  • NP_001350156.1:p.Ser568Cys
  • NP_001350157.1:p.Ser475Cys
  • NP_001350158.1:p.Ser251Cys
  • NP_689632.2:p.Ser539Cys
  • NC_000008.10:g.43052985C>G
Protein change:
S251C
Links:
dbSNP: rs1372286994
NCBI 1000 Genomes Browser:
rs1372286994
Molecular consequence:
  • NM_001363227.2:c.1703C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363228.2:c.1424C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363229.2:c.752C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152419.3:c.1616C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mucopolysaccharidosis, MPS-III-C (MPS3C)
Synonyms:
Mucopoly-saccharidosis type 3C; Sanfilippo syndrome C; Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009657; MedGen: C0086649; Orphanet: 581; Orphanet: 79271; OMIM: 252930
Name:
Retinitis pigmentosa 73 (RP73)
Identifiers:
MONDO: MONDO:0014687; MedGen: C4225287; Orphanet: 791; OMIM: 616544

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
SCV001563059Invitaecriteria provided, single submitter
Uncertain significance
(Jun 16, 2020)
germlineclinical testing

PubMed (4)
[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

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, van Diggelen OP, Wevers RA, Poorthuis BJ, Pshezhetsky AV, Wijburg FA.

Mol Genet Metab. 2008 Feb;93(2):104-11. Epub 2007 Nov 19.

PubMed [citation]
PMID:
18024218

Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.

Feldhammer M, Durand S, Pshezhetsky AV.

PLoS One. 2009 Oct 13;4(10):e7434. doi: 10.1371/journal.pone.0007434.

PubMed [citation]
PMID:
19823584
PMCID:
PMC2757673
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001563059.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change replaces serine with cysteine at codon 539 of the HGSNAT protein (p.Ser539Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with mucopolysaccharidosis IIIC (PMID: 18024218). ClinVar contains an entry for this variant (Variation ID: 830366). This variant has been reported to affect HGSNAT protein function (PMID: 19823584, 20583299). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Nov 27, 2021

Support Center