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NM_000203.5(IDUA):c.1349C>A (p.Pro450His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 7, 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:
RCV000781474.1

Allele description [Variation Report for NM_000203.5(IDUA):c.1349C>A (p.Pro450His)]

NM_000203.5(IDUA):c.1349C>A (p.Pro450His)

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.1349C>A (p.Pro450His)
HGVS:
  • NC_000004.12:g.1002891C>A
  • NG_008103.1:g.20895C>A
  • NM_000203.5:c.1349C>AMANE SELECT
  • NM_001363576.1:c.953C>A
  • NP_000194.2:p.Pro450His
  • NP_001350505.1:p.Pro318His
  • LRG_1277t1:c.1349C>A
  • LRG_1277:g.20895C>A
  • LRG_1277p1:p.Pro450His
  • NC_000004.11:g.996679C>A
  • NM_000203.3:c.1349C>A
  • NM_000203.4:c.1349C>A
  • NR_110313.1:n.1437C>A
Protein change:
P318H
Links:
dbSNP: rs895626490
NCBI 1000 Genomes Browser:
rs895626490
Molecular consequence:
  • NM_000203.5:c.1349C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363576.1:c.953C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110313.1:n.1437C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000919532Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Dec 7, 2017) 		germlineclinical testing

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000919532.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: The IDUA c.1349C>A (p.Pro450His) variant involves the alteration of a conserved nucleotide. 2/3 in silico tools predict a damaging outcome for this variant (SNPsandGO and MutationTaster not captured due to low reliability index). This variant was found in 3/30770 control chromosomes at a frequency of 0.0000975, which does not exceed the estimated maximal expected allele frequency of a pathogenic IDUA variant (0.0026926). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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

Last Updated: Sep 29, 2024