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NM_000203.5(IDUA):c.1691T>C (p.Leu564Pro) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 13, 2023
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:
RCV003383796.2

Allele description [Variation Report for NM_000203.5(IDUA):c.1691T>C (p.Leu564Pro)]

NM_000203.5(IDUA):c.1691T>C (p.Leu564Pro)

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.1691T>C (p.Leu564Pro)
HGVS:
  • NC_000004.12:g.1003589T>C
  • NG_008103.1:g.21593T>C
  • NG_101700.1:g.478T>C
  • NM_000203.5:c.1691T>CMANE SELECT
  • NM_001363576.1:c.1295T>C
  • NP_000194.2:p.Leu564Pro
  • NP_001350505.1:p.Leu432Pro
  • LRG_1277t1:c.1691T>C
  • LRG_1277:g.21593T>C
  • LRG_1277p1:p.Leu564Pro
  • NC_000004.11:g.997377T>C
  • NM_000203.3:c.1691T>C
  • NR_110313.1:n.1779T>C
Protein change:
L432P
Molecular consequence:
  • NM_000203.5:c.1691T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363576.1:c.1295T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110313.1:n.1779T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004089170Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 13, 2023) 		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 Ambry Genetics, SCV004089170.2

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

Description

The c.1691T>C (p.L564P) alteration is located in exon 12 (coding exon 12) of the IDUA gene. This alteration results from a T to C substitution at nucleotide position 1691, causing the leucine (L) at amino acid position 564 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024