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NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) AND Hurler syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 10, 2017
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:
RCV000668680.1

Allele description [Variation Report for NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)]

NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)

Gene:
IDUA:alpha-L-iduronidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)
HGVS:
  • NC_000004.12:g.1001802T>A
  • NG_008103.1:g.19806T>A
  • NM_000203.5:c.713T>AMANE SELECT
  • NM_001363576.1:c.317T>A
  • NP_000194.2:p.Leu238Gln
  • NP_001350505.1:p.Leu106Gln
  • LRG_1277t1:c.713T>A
  • LRG_1277:g.19806T>A
  • LRG_1277p1:p.Leu238Gln
  • NC_000004.11:g.995590T>A
  • NM_000203.3:c.713T>A
  • NM_000203.4:c.713T>A
  • NM_000203.5(IDUA):c.713T>AMANE SELECT
  • NR_110313.1:n.801T>A
  • P35475:p.Leu238Gln
Protein change:
L106Q
Links:
UniProtKB: P35475#VAR_020980; dbSNP: rs148789453
NCBI 1000 Genomes Browser:
rs148789453
Molecular consequence:
  • NM_000203.5:c.713T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363576.1:c.317T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110313.1:n.801T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hurler syndrome
Synonyms:
MUCOPOLYSACCHARIDOSIS TYPE IH; Gargoylism, Hurler Syndrome
Identifiers:
MONDO: MONDO:0011758; MedGen: C0086795; OMIM: 607014

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000793321Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Aug 10, 2017) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.

Yogalingam G, Guo XH, Muller VJ, Brooks DA, Clements PR, Kakkis ED, Hopwood JJ.

Hum Mutat. 2004 Sep;24(3):199-207.

PubMed [citation]
PMID:
15300847

Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.

Ahmed A, Whitley CB, Cooksley R, Rudser K, Cagle S, Ali N, Delaney K, Yund B, Shapiro E.

Mol Genet Metab. 2014 Feb;111(2):123-7. doi: 10.1016/j.ymgme.2013.11.014. Epub 2013 Dec 12.

PubMed [citation]
PMID:
24368159
PMCID:
PMC3939822

Details of each submission

From Counsyl, SCV000793321.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024