Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_000203.5(IDUA):c.99T>G (p.His33Gln)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA145894

92651 (ClinVar)

Gene: IDUA

Condition: mucopolysaccharidosis type 1

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 8e58eb4d-834d-4b73-861f-2f97018fcec4

Approved on: 2024-12-06

Published on: 2024-12-15

HGVS expressions

NM_000203.5:c.99T>G

NM_000203.5(IDUA):c.99T>G (p.His33Gln)

NC_000004.12:g.987183T>G

CM000666.2:g.987183T>G

NC_000004.11:g.980971T>G

CM000666.1:g.980971T>G

NC_000004.10:g.970971T>G

NG_008103.1:g.5187T>G

NG_033042.1:g.11254A>C

ENST00000247933.9:c.99T>G

ENST00000514224.2:c.99T>G

ENST00000247933.8:c.99T>G

ENST00000398520.6:c.576+3945A>C

ENST00000502910.5:c.99T>G

ENST00000504568.5:c.97T>G

ENST00000506561.5:n.108T>G

ENST00000508168.5:n.118T>G

ENST00000514698.5:n.140T>G

ENST00000622731.4:c.576+3945A>C

NM_000203.4:c.99T>G

NM_134425.2:c.576+3945A>C

NR_110313.1:n.187T>G

NM_134425.3:c.576+3945A>C

NM_134425.4:c.576+3945A>C

Benign

BA1

Evidence Links 0

Expert Panel

Lysosomal Diseases VCEP

Criteria Specification Information

Criteria Specification: ClinGen Lysosomal Diseases Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IDUA Version 1.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Lysosomal Diseases VCEP

The NM_000203.5:c.99T>G variant in IDUA is a missense variant predicted to cause substitution of histidine by glutamine at amino acid 33 (p.His33Gln). The highest population minor allele frequency in gnomAD v4.1.0 is 0.9605 (65474/68164 alleles; 31451 homozygotes; Grpmax Filtering AF 95% confidence = 0.9544) in the African/African American population, which is higher than the ClinGen Lysosomal Diseases VCEP’s threshold for BA1 (>0.005), and therefore meets this criterion (BA1). There is a ClinVar entry for this variant (Variation ID: 92651). In summary, this variant meets the criteria to be classified as benign for mucopolysaccharidosis type 1. IDUA-specific ACMG/AMP criteria applied, as specified by the ClinGen Lysosomal Diseases Variant Curation Expert Panel (Specifications Version 1.0.0): BA1. (Classification approved by the ClinGen Lysosomal Diseases Variant Curation Expert Panel on December 6, 2024)

BA1

The highest population minor allele frequency in gnomAD v4.1.0 is 0.9605 (65474/68164 alleles; 31451 homozygotes; Grpmax Filtering AF 95% confidence = 0.9544) in the African/African American population, which is higher than the ClinGen Lysosomal Diseases VCEP’s threshold for BA1 (>0.005), and therefore meets this criterion (BA1).

Curation History

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