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NM_000169.2(GLA):c.593T>C (p.Ile198Thr)

Variation ID: Help
167142
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000169.2(GLA):c.593T>C (p.Ile198Thr)

Allele ID:
177172
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.1
Genomic location:
  • ChrX: 101400712 (on Assembly GRCh38)
  • ChrX: 100655700 (on Assembly GRCh37)
Protein change:
I198T
HGVS:
  • NG_007119.1:g.12252T>C
  • NM_000169.2:c.593T>C
  • NP_000160.1:p.Ile198Thr
  • NC_000023.11:g.101400712A>G (GRCh38)
  • LRG_672t1:c.593T>C
  • NC_000023.10:g.100655700A>G (GRCh37)
  • P06280:p.Ile198Thr
  • LRG_672p1:p.Ile198Thr
  • LRG_672:g.12252T>C
Links:
NCBI 1000 Genomes Browser:
rs727503950
Molecular consequence:
NM_000169.2:c.593T>C: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • The Genome Aggregation Database (gnomAD), exomes 0.00001
  • Trans-Omics for Precision Medicine (TOPMed) 0.00004

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Likely pathogenic
(Oct 24, 2017)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000202803.7
Uncertain significance
(Apr 27, 2018)
criteria provided, single submitter
clinical testinggermlineInvitaeSCV000819448.1
Likely pathogenic
(Jan 1, 2014)
no assertion criteria providedresearchinheritedAlbrecht-Kossel-Institute,Medical University RostockSCV000246053.1

PGx

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
drug response
(Jan 1, 2014)
no assertion criteria providedresearchCondition: Deoxygalactonojirimycin response
inheritedAlbrecht-Kossel-Institute,Medical University RostockSCV000246054.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot provided31germline, inheritednot providednot provided
Albrecht-Kossel-Institute,Medical University Rostocknot providednot providedinheritednot providednot providedPharmacological Chaperone resp…Full description
EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided31germlinenot providednot providednot provided
Invitaenot providednot providedgermlinenot providednot providedThis sequence change replaces …Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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