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.1081G>A (p.Ala361Thr)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA145865

92624 (ClinVar)

Gene: IDUA

Condition: mucopolysaccharidosis type 1

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 7d2a1d39-e9bf-4858-aa72-b7699c181453

Approved on: 2024-12-06

Published on: 2024-12-15

HGVS expressions

NM_000203.5:c.1081G>A

NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr)

NC_000004.12:g.1002377G>A

CM000666.2:g.1002377G>A

NC_000004.11:g.996165G>A

CM000666.1:g.996165G>A

NC_000004.10:g.986165G>A

NG_008103.1:g.20381G>A

ENST00000247933.9:c.1081G>A

ENST00000514224.2:c.1081G>A

ENST00000652070.1:n.1137G>A

ENST00000247933.8:c.1081G>A

ENST00000514224.1:c.685G>A

ENST00000514698.5:n.1188G>A

NM_000203.4:c.1081G>A

NR_110313.1:n.1169G>A

NM_001363576.1:c.685G>A

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.1081G>A variant in IDUA is a missense variant predicted to cause substitution of alanine by threonine at amino acid 361 (p.Ala361Thr). The highest population minor allele frequency in gnomAD v4.1.0 is 0.2976 (27037/90842 alleles; 4256 homozygotes; Grpmax Filtering AF 95% confidence = 0.2947) in the South Asian 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: 92624). 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 0.2976 (27037/90842 alleles; 4256 homozygotes; Grpmax Filtering AF 95% confidence = 0.2947) in the South Asian 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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