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NM_000152.5(GAA):c.1115A>T (p.His372Leu)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 6, 2020)
Last evaluated:
Oct 18, 2019
Accession:
VCV000370483.2
Variation ID:
370483
Description:
single nucleotide variant
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NM_000152.5(GAA):c.1115A>T (p.His372Leu)

Allele ID
358495
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q25.3
Genomic location
17: 80108528 (GRCh38) GRCh38 UCSC
17: 78082327 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.80108528A>T
NC_000017.10:g.78082327A>T
NM_000152.5:c.1115A>T MANE Select NP_000143.2:p.His372Leu missense
... more HGVS
Protein change
H372L
Other names
-
Canonical SPDI
NC_000017.11:80108527:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16041889
dbSNP: rs1057516520
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Oct 18, 2019 RCV000411518.2
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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
1490 1529

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 18, 2016)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease, type II
Allele origin: unknown
Counsyl
Accession: SCV000485819.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (3)
Pathogenic
(Oct 18, 2019)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease, type II
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001362545.1
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (6)
Comment:
Variant summary: GAA c.1115A>T (p.His372Leu) results in a non-conservative amino acid change located in the Glycoside hydrolase family 31 domain (IPR000322) of the encoded protein … (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
Infantile onset Pompe disease presenting with non-immune hydrops fetalis. Lee K Molecular genetics and metabolism reports 2019 PMID: 31467850
Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations. Chen X Genetic testing and molecular biomarkers 2017 PMID: 28394184
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease. Lin N Clinical chemistry 2017 PMID: 28196920
Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease. van Gelder CM Journal of inherited metabolic disease 2015 PMID: 24715333
Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study. van Capelle CI Neuromuscular disorders : NMD 2010 PMID: 20817528
Molecular diagnosis of German patients with late-onset glycogen storage disease type II. Joshi PR Journal of inherited metabolic disease 2008 PMID: 18607768
Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Van den Hout JM Pediatrics 2004 PMID: 15121988

Text-mined citations for rs1057516520...

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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 Jun 14, 2021