ClinVar Genomic variation as it relates to human health
NM_000152.5(GAA):c.546G>A (p.Thr182=)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000152.5(GAA):c.546G>A (p.Thr182=)
Variation ID: 280955 Accession: VCV000280955.28
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q25.3 17: 80105132 (GRCh38) [ NCBI UCSC ] 17: 78078931 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 3, 2017 Feb 14, 2024 Jul 18, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000152.5(GAA):c.546G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NM_000152.5:c.546G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000143.2:p.Thr182= synonymous NM_000152.4:c.546G>A NM_001079803.3:c.546G>A NP_001073271.1:p.Thr182= synonymous NM_001079804.3:c.546G>A NP_001073272.1:p.Thr182= synonymous NC_000017.11:g.80105132G>A NC_000017.10:g.78078931G>A NG_009822.1:g.8577G>A LRG_673:g.8577G>A LRG_673t1:c.546G>A - Protein change
- Other names
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- Canonical SPDI
- NC_000017.11:80105131:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.00020 (A)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00005
Trans-Omics for Precision Medicine (TOPMed) 0.00005
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
1000 Genomes Project 30x 0.00016
1000 Genomes Project 0.00020
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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GAA | - | - |
GRCh38 GRCh38 GRCh37 |
2757 | 2807 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (11) |
reviewed by expert panel
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Jul 18, 2023 | RCV000385549.23 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Nov 6, 2023 | RCV000723387.11 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Jul 18, 2023)
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reviewed by expert panel
Method: curation
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Glycogen storage disease, type II
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel
Accession: SCV004227919.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
The NM_000152.5:c.546G>A variant alters that last nucleotide of exon 2 of GAA, but does not result in an amino acid change (p.Thr182=). Two different studies, … (more)
The NM_000152.5:c.546G>A variant alters that last nucleotide of exon 2 of GAA, but does not result in an amino acid change (p.Thr182=). Two different studies, one using real-time RT-PCR to analyze RNA from cultured fibroblasts from an patient with the variant, and another involving minigene analysis showed that the variant disrupts normal splicing, resulting in skipping of exon 2, with a low proportion of normal transcripts produced (PMID: 14695532, 31301153). Exon 2 contains the start methionine and signal sequence for GAA (amino acids 1-27; https://www.uniprot.org/uniprot/P10253). In addition, deletion of exon 2 results in complete loss of enzyme activity when expressed in heterologous cells (PMID 7881425; PMID 7717400). As this variant appears to allow a low level of normal splicing to occur, PVS1 was applied at the strong level (PVS1_Strong). Four individuals with a diagnosis of late onset Pompe disease and this variant have been reported with documented laboratory values showing GAA activity in the affected range in dried blood spots or muscle, or <30% activity in skin fibroblasts or <10% activity in muscle and lymphocytes (PMID: 14695532, 21484825, 21984055, 25037089) (PP4_Moderate). Two of these patients are compound heterozygous for the variant and another variant in GAA that has been classified as pathogenic by the ClinGen LD VCEP including c.525delT (PMID: 14695532), and c.655G>A (p.Gly219Arg) (PMID: 25037089), phase not confirmed (PM3). Additional patients have been reported who are compound heterozygous for the variant and either c.736delC (PMID: 30564623), c.307T>C (p.Cys103Arg) (PMID: 21984055), c.2041-1G>A (PMID: 21484825); the allelic data from these patients will be used in the classification of the second variant and is not included here to avoid circular logic. Finally, allelic data for newborn screening cases was not included here due to either lack of confirmation, lack of clinical symptoms in suspected LOPD patients, or presence of pseudodeficiency variants (PMID: 33202836, 34995642). The highest population minor allele frequency in gnomAD v2.1.1 is 0.0001 (2/19660 alleles) in the East Asian population, which is lower than the ClinGen LD VCEP’s threshold for PM2_Supporting (<0.001), meeting this criterion (PM2_Supporting). Other variants at the same nucleotide position (c.546G>T, c.546G>C), and in the same splice region (c.546+1G>T, c.546+2T>C, c.546+5G>T, and c.546del2-5) have been reported in individuals with Pompe disease (https://www.pompevariantdatabase.nl/). All of these variants have been shown to result in skipping of exon 2 using a minigene assay (PMID: 31301153). c.546G>T has been classified as pathogenic by the ClinGen Lysosomal Diseases VCEP (PS1_Moderate, PMID: 37352859). In summary, this variant meets the criteria to be classified as pathogenic for Pompe disease. GAA-specific ACMG/AMP criteria applied, based in the specification of the ClinGen Lysosomal Diseases VCEP: PVS1_Strong, PS1_Moderate, PM3, PP4_Moderate, PM2_Supporting. (Classification approved by the ClinGen Lysosomal Diseases VCEP on July 18, 2023) (less)
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Pathogenic
(Mar 30, 2016)
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criteria provided, single submitter
Method: clinical testing
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Glycogen storage disease, type II
Affected status: no
Allele origin:
germline
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Knight Diagnostic Laboratories, Oregon Health and Sciences University
Study: CSER-NextGen
Accession: SCV000538029.1 First in ClinVar: Apr 03, 2017 Last updated: Apr 03, 2017 |
Comment:
The c.546G>A (p.Thr182=) synonymous/splice variant in the GAA gene has been previously reported in in trans with another pathogenic variant (c.525delT) in one individual affected … (more)
The c.546G>A (p.Thr182=) synonymous/splice variant in the GAA gene has been previously reported in in trans with another pathogenic variant (c.525delT) in one individual affected with a mild, late-onset form of GSDII (Hermans et al., 2004). This variant is located near the canonical splice donor-site in intron 2 (last coding nucleotide in exon 2) of the GAA gene. mRNA expression studies from the affected individual’s fibroblasts showed that this variant reduced gene expression (6.3% relative to control) along with reduced alpha-glucosidase activity (3% relative to control); however, abnormally spliced transcripts were not observed (Hermans et al., 2004). Other single nucleotide variants at the same coding position (c.546) have been reported in affected individuals displaying a milder phenotype (Gort et al., 2007; Maimaiti et al., 2009; Kobayashi et al., 2010; Shimada et al., 2011). Furthermore, Tsuburaya RS et al., (2012), identified a c.546G>T variant in the homozygous state in two individuals with adult-onset Pompe disease and showed, by RNA splicing studies, that this variant resulted in exon 2 skipping and reduced enzymatic activity (7.5% and 12.3% respectively). The c.546G>A variant is reported at low frequency in the population databases (Exome Sequencing Project [ESP] = 0.024%; 1000 Genomes = 0.4%; ExAC = 0.036%). In silico splicing algorithms predict this variant will result in abnormal splicing (Human Splice Finder = Broken WT Donor Site, New ESS Site, ESE Site Broken). Therefore, this collective evidence supports the classification of the c.546G>A (p.Thr182=) as a Pathogenic variant for GSDII; however, variants at this nucleotide position have only been observed in individuals affected with a mild, late-onset form of GSDII. (less)
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Pathogenic
(Nov 22, 2017)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Eurofins Ntd Llc (ga)
Accession: SCV000330940.4
First in ClinVar: Dec 06, 2016 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 10
Sex: mixed
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Likely pathogenic
(Jan 22, 2020)
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criteria provided, single submitter
Method: curation
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Glycogen storage disease, type II
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Accession: SCV001422886.2
First in ClinVar: Jul 19, 2020 Last updated: Feb 02, 2022 |
Comment:
The heterozygous c.546G>A (p.Thr182=) variant in GAA has been reported in 4 individuals (including 1 British individual) with Glycogen Storage Disease II (PMID: 21984055, 21484825, … (more)
The heterozygous c.546G>A (p.Thr182=) variant in GAA has been reported in 4 individuals (including 1 British individual) with Glycogen Storage Disease II (PMID: 21984055, 21484825, 14695532, 25037089), and has also been reported pathogenic (by Invitae, EGL Genetic Diagnostics, Oregon Health and Sciences University, and Integrated Genetics) and likely pathogenic (by Counsyl) in ClinVar (Variation ID: 280955). This variant has been identified in 0.010% (2/19660) of East Asian chromosomes, 0.008503% (2/23522) of African chromosomes, and 0.003% (4/121752) of European (non-Finnish) chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs143523371). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. This variant is located in the last three bases of the exon, which is part of the 5' splice region. Computational tools do suggest an impact to splicing. The Threonine (Thr) at position 182 is not well conserved in mammals or evolutionary distant species, raising the possibility that a change at this position may be tolerated. However, this information is not predictive enough to rule out pathogenicity. In vitro functional studies (e.g. RT-PCR) provide some evidence that the c.546G>A variant may significantly reduce GAA expression but may not cause abnormal splicing (PMID: 14695532). However, these types of assays may not accurately represent biological function. The presence of this variant in combination with 2 pathogenic variants and in individuals with Glycogen Storage Disease II increases the likelihood that the c.546G>C variant is pathogenic (PMID: 21484825, 25037089). The phenotype of at least two individuals heterozygous for this variant is highly specific for Glycogen Storage Disease II with reduced GAA activity detected in relevant tissue (PMID: 21484825, 25037089). Two additional variants at the same position, c.546G>T and c.546G>C, have been reported as a VUS or likely pathogenic in association with Glycogen Storage Disease II in ClinVar (Variation ID: 370637, 281056). In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic. ACMG/AMP Criteria applied: PM2, PM3, PP3, PP4, PS3_Supporting (Richards 2015). (less)
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Pathogenic
(Mar 02, 2022)
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criteria provided, single submitter
Method: clinical testing
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Glycogen storage disease, type II
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000695662.2
First in ClinVar: Apr 03, 2017 Last updated: Apr 23, 2022 |
Comment:
Variant summary: GAA c.546G>A (p.Thr182Thr) alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a … (more)
Variant summary: GAA c.546G>A (p.Thr182Thr) alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a canonical 5 prime splicing donor site. Four predict the variant creates a cryptic 3 prime acceptor site. Goina_2019 have demonstarted that c.546G>A, c.546G>C and c.546G>T leads to exon 2 skipping compared to wild type. This is consistent with c.546G appears to be a mutational hot-spot, as other alterations of this nucleotide, c.546G>T and c.546G>C, leading to the same synonymous change (p.Thr182=) are associated with glycogen storage disease in HGMD. The variant allele was found at a frequency of 3e-05 in 236410 control chromosomes (gnomAD). c.546G>A has been reported in the literature in individuals affected with Glycogen Storage Disease, Type 2 (Pompe Disease)(examples: Bali_2011, Hermans_2004 and Ficicioglu_2020). These data indicate that the variant is associated with disease. Eight clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic (n=6) and likely pathogenic (n=2). Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Jan 13, 2022)
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criteria provided, single submitter
Method: clinical testing
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Glycogen storage disease, type II
Affected status: unknown
Allele origin:
unknown
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Illumina Laboratory Services, Illumina
Accession: SCV002540233.1
First in ClinVar: Jul 06, 2022 Last updated: Jul 06, 2022 |
Comment:
The GAA c.546G>A (p.Thr182=) synonymous variant occurs at the last nucleotide of exon 2, and results in substitution of guanine with adenine at position 546 … (more)
The GAA c.546G>A (p.Thr182=) synonymous variant occurs at the last nucleotide of exon 2, and results in substitution of guanine with adenine at position 546 and may result in splicing defects. This variant has been reported in five individuals with late-onset glycogen storage disease, type II, in a compound heterozygous state with a missense, splice site or frameshift variant (Hermans et al. 2004; Bali et al. 2011; Furusawa et al. 2012; Dasouki 2014; Nallamalli et al. 2018). Affected individuals show reduced alpha-glucosidase activity. The highest frequency of this allele in the Genome Aggregation Database is 0.000147 in the European (non-Finnish) population (version 3.1.2). Another nucleotide change at the same position, c.546G>T, is an established pathogenic variant. Based on the available evidence, c.546G>A (p.Thr182=) variant is classified as pathogenic for glycogen storage disease, type II. (less)
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Pathogenic
(Oct 16, 2021)
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criteria provided, single submitter
Method: clinical testing
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Glycogen storage disease, type II
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002792334.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Jun 02, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV001816690.3
First in ClinVar: Sep 08, 2021 Last updated: Mar 04, 2023 |
Comment:
Published real-time RT-PCR studies showed that mRNA containing the c.546 G>A variant was reduced to 6.3% of normal mRNA levels, which likely corresponded to the … (more)
Published real-time RT-PCR studies showed that mRNA containing the c.546 G>A variant was reduced to 6.3% of normal mRNA levels, which likely corresponded to the greatly reduced enzyme activity in proband fibroblasts (Hermans et al., 2004); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 21179066, 25525159, 14695532, 31301153, 21484825, 30564623, 31980526, 25037089, 33202836) (less)
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Pathogenic
(Nov 06, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002023862.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Jan 24, 2024)
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criteria provided, single submitter
Method: clinical testing
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Glycogen storage disease, type II
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000752061.8
First in ClinVar: Apr 03, 2017 Last updated: Feb 14, 2024 |
Comment:
This sequence change affects codon 182 of the GAA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid … (more)
This sequence change affects codon 182 of the GAA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon 2, which is part of the consensus splice site for this exon. This variant is present in population databases (rs143523371, gnomAD 0.02%). This variant has been observed in individuals with late-onset Pompe disease (PMID: 14695532, 21484825, 25037089). ClinVar contains an entry for this variant (Variation ID: 280955). Studies have shown that this variant alters GAA gene expression (PMID: 14695532). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant disrupts the c.546G nucleotide in the GAA gene. Other variant(s) that disrupt this nucleotide have been determined to be pathogenic (PMID: 17616415, 19609281, 20202878, 21179066, 21982629, 22196155). This suggests that this nucleotide is clinically significant, and that variants that disrupt this position are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Oct 31, 2023)
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criteria provided, single submitter
Method: clinical testing
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Glycogen storage disease, type II
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004195419.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Likely pathogenic
(Jun 01, 2018)
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no assertion criteria provided
Method: clinical testing
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Glycogen storage disease, type II
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000800377.2
First in ClinVar: Apr 03, 2017 Last updated: Dec 23, 2019 |
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Pathogenic
(Sep 16, 2020)
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no assertion criteria provided
Method: clinical testing
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Glycogen storage disease type II
Affected status: unknown
Allele origin:
germline
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Natera, Inc.
Accession: SCV001453589.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Glycogen storage disease, type II
Affected status: yes
Allele origin:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001550142.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The GAA p.Thr182= variant was identified in 2 of 136 proband chromosomes (frequency: 0.015) from individuals or families with Glycogen-storage disease type II. Sequence variations … (more)
The GAA p.Thr182= variant was identified in 2 of 136 proband chromosomes (frequency: 0.015) from individuals or families with Glycogen-storage disease type II. Sequence variations studies were included one in silico analysis using three Splice Site Prediction (SSP) programs to evaluate the potential effect on splice sites (MaxEntScan, NNSplice and HBond). The c.546G4A mutation does not lead to an amino-acid substitution but modifies the splice donor site of exon 2 “ACAgtgggc instead of ACGgtgggc” (Hermans_2004, Zampieri_2011). The variant was also identified in dbSNP (ID: rs143523371) as “With Likely Pathogenic allele”; in ClinVar and Cllinvitae databases as Pathogenic by Emory Genetics and Knight Diagnostic Laboratories Oregoon Health and Sciences University. In addition, the variant was identified in the 1000 Genomes Project in 1 of 5000 chromosomes (frequency: 0.0002) and in the NHLBI GO Exome Sequencing Project in 1 of 4134 African American alleles (Freq: 0.0002). The variant was not identified in the GeneInsight-COGR, Cosmic, MutDB, databases. The variant was identified in control databases in 7 of 263174 chromosomes at a frequency of 0.000027 (Genome Aggregation Consortium Feb 27, 2017). The c.546G>A variant occurs in the last base of the exon. This position has been shown to be part of the splicing consensus sequence and variants involving this position sometimes affect splicing. In addition, 3 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
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Germline Functional Evidence
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 germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Newborn Screening for Pompe Disease: Pennsylvania Experience. | Ficicioglu C | International journal of neonatal screening | 2020 | PMID: 33202836 |
Assessment of the functional impact on the pre-mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology. | Goina E | Human mutation | 2019 | PMID: 31301153 |
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients. | Nallamilli BRR | Annals of clinical and translational neurology | 2018 | PMID: 30564623 |
Pompe disease: literature review and case series. | Dasouki M | Neurologic clinics | 2014 | PMID: 25037089 |
Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology. | Tsuburaya RS | Neuromuscular disorders : NMD | 2012 | PMID: 22196155 |
Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study. | Furusawa Y | Journal of inherited metabolic disease | 2012 | PMID: 21984055 |
Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation. | Shimada Y | Molecular genetics and metabolism | 2011 | PMID: 21982629 |
Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity. | Bali DS | Muscle & nerve | 2011 | PMID: 21484825 |
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes. | Zampieri S | European journal of human genetics : EJHG | 2011 | PMID: 21179066 |
Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case. | Kobayashi H | Molecular genetics and metabolism | 2010 | PMID: 20202878 |
Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing. | Maimaiti M | Journal of human genetics | 2009 | PMID: 19609281 |
Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation. | Gort L | Molecular genetics and metabolism | 2007 | PMID: 17616415 |
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. | Buratti E | Nucleic acids research | 2007 | PMID: 17576681 |
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. | Hermans MM | Human mutation | 2004 | PMID: 14695532 |
Statistical features of human exons and their flanking regions. | Zhang MQ | Human molecular genetics | 1998 | PMID: 9536098 |
Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male. | Chancellor AM | Journal of neurology, neurosurgery, and psychiatry | 1991 | PMID: 1895140 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GAA | - | - | - | - |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/9a0469a6-52f5-4178-8861-7dc3a0e9bbd1 | - | - | - | - |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/a8d1b99b-8750-4d08-89b5-084549b4637f | - | - | - | - |
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Text-mined citations for rs143523371 ...
HelpRecord last updated Mar 30, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.