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NM_000203.5(IDUA):c.245A>C (p.His82Pro) AND Hurler syndrome

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
May 28, 2019
Review status:
criteria provided, conflicting classifications
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:
RCV000664739.4

Allele description [Variation Report for NM_000203.5(IDUA):c.245A>C (p.His82Pro)]

NM_000203.5(IDUA):c.245A>C (p.His82Pro)

Genes:
IDUA:alpha-L-iduronidase [Gene - OMIM - HGNC]
SLC26A1:solute carrier family 26 member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_000203.5(IDUA):c.245A>C (p.His82Pro)
HGVS:
  • NC_000004.12:g.987895A>C
  • NG_008103.1:g.5899A>C
  • NG_033042.1:g.10542T>G
  • NM_000203.5:c.245A>CMANE SELECT
  • NM_022042.4:c.*938T>GMANE SELECT
  • NM_134425.4:c.576+3233T>G
  • NM_213613.4:c.*938T>G
  • NP_000194.2:p.His82Pro
  • LRG_1277t1:c.245A>C
  • LRG_1277:g.5899A>C
  • LRG_1277p1:p.His82Pro
  • NC_000004.11:g.981683A>C
  • NM_000203.3:c.245A>C
  • NM_000203.4:c.245A>C
  • NR_110313.1:n.333A>C
  • P35475:p.His82Pro
Protein change:
H82P
Links:
UniProtKB: P35475#VAR_003353; dbSNP: rs794727239
NCBI 1000 Genomes Browser:
rs794727239
Molecular consequence:
  • NM_022042.4:c.*938T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_213613.4:c.*938T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_134425.4:c.576+3233T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000203.5:c.245A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110313.1:n.333A>C - 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
SCV000788747Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Jan 6, 2017) 		unknownclinical testing

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

Citation Link,

SCV001136674Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Benign
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.

Venturi N, Rovelli A, Parini R, Menni F, Brambillasca F, Bertagnolio F, Uziel G, Gatti R, Filocamo M, Donati MA, Biondi A, Goldwurm S.

Hum Mutat. 2002 Sep;20(3):231.

PubMed [citation]
PMID:
12203999

Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.

Clarke LA, Scott HS.

Hum Mol Genet. 1993 Aug;2(8):1311-2. No abstract available.

PubMed [citation]
PMID:
8401515

Details of each submission

From Counsyl, SCV000788747.1

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

From Mendelics, SCV001136674.1

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

Last Updated: Sep 1, 2024