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NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
May 19, 2020
Accession:
VCV000370276.5
Variation ID:
370276
Description:
single nucleotide variant
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NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)

Allele ID
358490
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q25.3
Genomic location
17: 80105775 (GRCh38) GRCh38 UCSC
17: 78079574 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_673:g.9220C>A
LRG_673t1:c.573C>A
NC_000017.10:g.78079574C>A
... more HGVS
Protein change
Y191*
Other names
-
Canonical SPDI
NC_000017.11:80105774:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16041885
dbSNP: rs376229714
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 4 reviewed by expert panel May 19, 2020 RCV000410905.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GAA - - GRCh38
GRCh37
1519 1559

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 19, 2020)
reviewed by expert panel
Method: curation
Glycogen storage disease, type II
(Autosomal recessive inheritance)
Allele origin: germline
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel, ClinGen
FDA Recognized Database
Accession: SCV001443318.1
Submitted: (Nov 13, 2020)
Evidence details
Publications
PubMed (2)
Other databases
https://erepo.clinicalgenome.org…
Comment:
This variant, c.573C>A (p.Tyr191Ter), is a nonsense variant that is predicted to result in nonsense-mediated decay and lack of gene product, meeting PVS1. The highest … (more)
Likely pathogenic
(Jan 04, 2016)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease, type II
Allele origin: unknown
Counsyl
Accession: SCV000485538.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (3)
Pathogenic
(Apr 18, 2020)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease, type II
Allele origin: germline
Invitae
Accession: SCV001398596.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change creates a premature translational stop signal (p.Tyr191*) in the GAA gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Jan 22, 2020)
no assertion criteria provided
Method: curation
Glycogen storage disease, type II
(Autosomal recessive inheritance)
Allele origin: germline
Broad Institute Rare Disease Group, Broad Institute
Accession: SCV001422882.1
Submitted: (Mar 09, 2020)
Evidence details
Other databases
https://erepo.clinicalgenome.org…
Comment:
The p.Tyr191Ter variant in GAA has been reported in 3 Spanish and 1 French individuals with Glycogen Storage Disease II (PMID: 11738358, 18505979, 25998610), and … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study. Semplicini C Journal of inherited metabolic disease 2018 PMID: 30155607
Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort. Gutiérrez-Rivas E Neuromuscular disorders : NMD 2015 PMID: 25998610
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience. Bali DS American journal of medical genetics. Part C, Seminars in medical genetics 2012 PMID: 22252923
Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease. Laforêt P Neurology 2008 PMID: 18505979
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. Kroos M Human mutation 2008 PMID: 18425781
Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease). Fernandez-Hojas R Neuromuscular disorders : NMD 2002 PMID: 11738358
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/08e9886c-b096-4ec6-ac73-d3614d005d8a - - - -
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/9938ac41-3cc5-4988-93eb-685d62d291a7 - - - -

Text-mined citations for rs376229714...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021