ClinVar Genomic variation as it relates to human health
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
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
-
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
Variation ID: 6926 Accession: VCV000006926.52
- Type and length
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Deletion, 2 bp
- Location
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Cytogenetic: 11q23.3 11: 119025271-119025272 (GRCh38) [ NCBI UCSC ] 11: 118895981-118895982 (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 May 10, 2014 Apr 15, 2024 Jan 29, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001164277.2:c.1042_1043del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001157749.1:p.Leu348fs frameshift NM_001164277.1:c.1042_1043delCT NM_001164278.2:c.1108_1109del NP_001157750.1:p.Leu370fs frameshift NM_001164279.2:c.823_824del NP_001157751.1:p.Leu275fs frameshift NM_001164280.2:c.1042_1043del NP_001157752.1:p.Leu348fs frameshift NM_001467.6:c.1042_1043del NP_001458.1:p.Leu348fs frameshift NC_000011.10:g.119025271_119025272del NC_000011.9:g.118895981_118895982del NG_013331.1:g.10634_10635del LRG_187:g.10634_10635del LRG_187t1:c.1042_1043del LRG_187p1:p.Leu348fs - Protein change
- L275fs, L348fs, L370fs
- Other names
- 1211delCT
- p.Leu370ValfsTer53
- Canonical SPDI
- NC_000011.10:119025270:AG:
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- protein truncation Variation Ontology [VariO:0015]
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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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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.00016
Exome Aggregation Consortium (ExAC) 0.00023
The Genome Aggregation Database (gnomAD), exomes 0.00017
1000 Genomes Project 30x 0.00016
The Genome Aggregation Database (gnomAD) 0.00026
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
Help
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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SLC37A4 | - | - |
GRCh38 GRCh38 GRCh37 |
998 | 1036 |
Conditions - Germline
Condition
Help
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 (2) |
criteria provided, single submitter
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Feb 23, 2023 | RCV000007337.11 | |
Pathogenic (11) |
criteria provided, multiple submitters, no conflicts
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Jan 29, 2024 | RCV000007336.38 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 24, 2017 | RCV000601076.11 | |
Pathogenic (1) |
criteria provided, single submitter
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Dec 16, 2015 | RCV000624535.10 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Dec 30, 2021 | RCV000723824.28 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 11, 2022 | RCV002476940.8 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 10, 2022 | RCV002279712.8 |
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
(Nov 20, 2017)
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criteria provided, single submitter
Method: clinical testing
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Glucose-6-phosphate transport defect
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
Accession: SCV000680381.1
First in ClinVar: Feb 08, 2018 Last updated: Feb 08, 2018 |
Sex: female
Tissue: blood
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Pathogenic
(Mar 14, 2017)
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criteria provided, single submitter
Method: clinical testing
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Glucose-6-phosphate transport defect
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697753.1
First in ClinVar: Feb 08, 2018 Last updated: Feb 08, 2018 |
Comment:
Variant summary: The SLC37A4 c.1042_1043delCT (p.Leu348Valfs) variant results in a premature termination codon, predicted to cause a truncated or absent SLC37A4 protein due to nonsense … (more)
Variant summary: The SLC37A4 c.1042_1043delCT (p.Leu348Valfs) variant results in a premature termination codon, predicted to cause a truncated or absent SLC37A4 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. This variant was found in 24/103512 control chromosomes at a frequency of 0.0002319, which does not exceed the estimated maximal expected allele frequency of a pathogenic SLC37A4 variant (0.0012247). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic.The variant was identified in multiple affected individuals homozygously or in compound heterozygosity in patients with clinically and biochemically confirmed Glycogen Storage Disease Type 1b (GSD1b). Multiple family studies showed segregation of this variant with GSD1b (Veiga-de-Cunha_AJHG_1998; Hiraiwa_J. Biol. Chem.-1999). Taken together, this variant is classified as pathogenic. (less)
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Pathogenic
(Jul 02, 2018)
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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: SCV000331530.4
First in ClinVar: Dec 06, 2016 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 2
Sex: mixed
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Pathogenic
(Jan 24, 2017)
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criteria provided, single submitter
Method: clinical testing
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Glycogen storage disease
(Autosomal recessive inheritance)
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000712814.2
First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
Comment:
The p.Leu348ValfsX53 (NM_001164277.1 c.1042_1043delCT) variant in SLC37A4 (also referred to as c.1211delCT in the literature) has been reported in at least 3 ho mozygous and … (more)
The p.Leu348ValfsX53 (NM_001164277.1 c.1042_1043delCT) variant in SLC37A4 (also referred to as c.1211delCT in the literature) has been reported in at least 3 ho mozygous and 10 compound heterozygous individuals with clinical features of Glyc ogen storage disease type I (GSDI) (Veiga da Cunha 1998, Janecke 1999, and Sante r 2000). This variant is reported as Pathogenic by three sources in ClinVar (Var iation ID#6926). This variant has also been identified in 13/57880 of European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs80356491). Although this variant has been seen in the general popu lation, its frequency is low enough to be consistent with a recessive carrier fr equency. This variant is predicted to cause a frameshift, which alters the prote in?s amino acid sequence beginning at position 348 and leads to a premature term ination codon 53 amino acids downstream. This alteration is then predicted to le ad to a truncated or absent protein. Biallelic loss of function of the SLC37A4 gene has been associated with Glycogen storage disease type I (GSDI). In summary , the p.Leu348ValfsX53 variant in SLC37A4 meets criteria for pathogenic for GSDI in an autosomal recessive manner based upon its biallelic occurrence in patient s with this disease and predicted functional impact. (less)
Number of individuals with the variant: 1
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Pathogenic
(Dec 19, 2019)
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criteria provided, single submitter
Method: clinical testing
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Glucose-6-phosphate transport defect
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV001193826.2
First in ClinVar: Apr 06, 2020 Last updated: Jul 06, 2020 |
Comment:
NM_001164277.1(SLC37A4):c.1042_1043delCT(L348Vfs*53, aka 1211delCT) is classified as pathogenic in the context of glycogen storage disease type Ib. Sources cited for classification include the following: PMID 9758626, … (more)
NM_001164277.1(SLC37A4):c.1042_1043delCT(L348Vfs*53, aka 1211delCT) is classified as pathogenic in the context of glycogen storage disease type Ib. Sources cited for classification include the following: PMID 9758626, 10923042 and 10940311. Classification of NM_001164277.1(SLC37A4):c.1042_1043delCT(L348Vfs*53, aka 1211delCT) is based on the following criteria: The variant causes a premature termination codon that is not expected to be targeted by nonsense-mediated mRNA decay; however, literature evidence strongly supports pathogenicity. Please note: this variant was assessed in the context of healthy population screening. (less)
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Pathogenic
(Dec 16, 2015)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: yes
Allele origin:
germline
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Ambry Genetics
Accession: SCV000741202.3
First in ClinVar: Apr 15, 2018 Last updated: Jan 07, 2023 |
Number of individuals with the variant: 1
Clinical Features:
Recurrent hypoglycemia (present) , Neutropenia (present) , Growth delay (present) , Delayed puberty (present) , Anemia (present) , Crohn's disease (present) , Seizures (present) , … (more)
Recurrent hypoglycemia (present) , Neutropenia (present) , Growth delay (present) , Delayed puberty (present) , Anemia (present) , Crohn's disease (present) , Seizures (present) , Hypoglycemia (present) , Increased hepatic glycogen content (present) (less)
Sex: male
Ethnicity/Population group: Caucasian
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Pathogenic
(Feb 23, 2023)
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criteria provided, single submitter
Method: clinical testing
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Phosphate transport defect
Affected status: yes
Allele origin:
unknown
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3billion
Accession: SCV003841821.1
First in ClinVar: Mar 18, 2023 Last updated: Mar 18, 2023 |
Comment:
The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.020%). This variant was predicted to result in … (more)
The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.020%). This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000006926 / PMID: 9781688). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Recurrent hypoglycemia (present) , Acidosis (present) , Hypertriglyceridemia (present)
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Pathogenic
(Nov 22, 2021)
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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: SCV003821186.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
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Pathogenic
(Dec 01, 2021)
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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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CeGaT Center for Human Genetics Tuebingen
Accession: SCV002063016.14
First in ClinVar: Jan 26, 2022 Last updated: Apr 15, 2024 |
Number of individuals with the variant: 1
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Pathogenic
(Jul 03, 2021)
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criteria provided, single submitter
Method: clinical testing
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Glucose-6-phosphate transport defect
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
unknown
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Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
Accession: SCV002098318.1
First in ClinVar: Feb 26, 2022 Last updated: Feb 26, 2022 |
Comment:
A homozygous 2 base pair deletion in exon 11 of the SLC37A4 gene that results in frameshift and premature truncation of the protein 53 amino … (more)
A homozygous 2 base pair deletion in exon 11 of the SLC37A4 gene that results in frameshift and premature truncation of the protein 53 amino acids downstream to codon 370. The observed variant c.1108_1109del (p.Leu370ValfsTer53) has not been reported in the 1000 genomes and has a MAF of 0.03% in the gnomAD databases. The in silico prediction of the variant are damaging by MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a pathogenic variant. (less)
Clinical Features:
Vomiting (present) , Diarrhea (present) , Fever (present) , Jaundice (present) , Hypoglycemia (present) , Lactic acidosis (present) , Hepatosplenomegaly (present)
Age: 0-9 years
Sex: female
Ethnicity/Population group: Hindu
Geographic origin: India
Method: DNA was used to perform targeted gene capture using a custom capture kit. Libraries were sequenced to mean > 80-100X coverage on the Illumina sequencing platform. Sequence obtained were aligned to human references genome using BWA program and analyzed using Picard and GATK-Lite toolkit to identify variants in the targeted genes relevant to clinical indication.
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Pathogenic
(Oct 26, 2021)
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criteria provided, single submitter
Method: clinical testing
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Glucose-6-phosphate transport defect
Affected status: yes
Allele origin:
germline
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Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
Accession: SCV002512368.1
First in ClinVar: May 21, 2022 Last updated: May 21, 2022 |
Comment:
ACMG classification criteria: PVS1 very strong, PS4 strong, PM2 moderate, PM3 very strong, PP1 supporting, PP4 supporting
Geographic origin: Brazil
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Pathogenic
(Aug 10, 2022)
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criteria provided, single submitter
Method: clinical testing
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Congenital disorder of glycosylation, type IIw
Affected status: yes
Allele origin:
germline
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DASA
Accession: SCV002567981.1
First in ClinVar: Aug 29, 2022 Last updated: Aug 29, 2022 |
Comment:
The c.1042_1043del;p.(Leu348Valfs*53) is a null frameshift variant (NMD) in the SLC37A4 gene without sufficient information about prediction of nonsense mediated mRNA decay (NMD); it is … (more)
The c.1042_1043del;p.(Leu348Valfs*53) is a null frameshift variant (NMD) in the SLC37A4 gene without sufficient information about prediction of nonsense mediated mRNA decay (NMD); it is present in a relevant exon to the transcript, and disrupts >10% of the protein product – PVS1_strong. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant(Clinvar ID: 6926; PMID: 20301489; 28224773; 26913919; 22899091; 15953877) - PS4. The variant is present at low allele frequencies population databases (rs80356491 – gnomAD 0.002562%; ABraOM 0.002562 frequency - https://abraom.ib.usp.br/) -PM2_supporting.The p.(Leu348Valfs*53) was detected in trans with a pathogenic variant (PMID: 22899091; 26913919; 28224773) - PM3_strong. In summary, the currently available evidence indicates that the variant is pathogenic. (less)
Number of individuals with the variant: 1
Sex: female
Geographic origin: Brazil
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Pathogenic
(Apr 11, 2022)
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criteria provided, single submitter
Method: clinical testing
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Glucose-6-phosphate transport defect
Phosphate transport defect Congenital disorder of glycosylation, type IIw
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV001752623.2
First in ClinVar: Jul 18, 2021 Last updated: Dec 31, 2022 |
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Pathogenic
(Dec 30, 2021)
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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: SCV001168625.3
First in ClinVar: Mar 16, 2020 Last updated: Mar 04, 2023 |
Comment:
Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 82 amino acids are lost and replaced with 52 incorrect amino … (more)
Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 82 amino acids are lost and replaced with 52 incorrect amino acids; This variant is associated with the following publications: (PMID: 18437526, 30609409, 31508908, 25971127, 15953877, 9758626, 9781688, 10323254, 32005221, 31536830, 31589614, 33977030) (less)
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Pathogenic
(Nov 08, 2022)
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criteria provided, single submitter
Method: clinical testing
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Glucose-6-phosphate transport defect
Affected status: yes
Allele origin:
germline
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
Accession: SCV004013976.1
First in ClinVar: Jul 22, 2023 Last updated: Jul 22, 2023 |
Comment:
PVS1, PS4, PM2, PP5
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Pathogenic
(Oct 25, 2023)
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criteria provided, single submitter
Method: clinical testing
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Glucose-6-phosphate transport defect
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004202432.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Jan 29, 2024)
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criteria provided, single submitter
Method: clinical testing
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Glucose-6-phosphate transport defect
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000755870.8
First in ClinVar: Feb 08, 2018 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Leu348Valfs*53) in the SLC37A4 gene. While this is not anticipated to result in nonsense mediated decay, … (more)
This sequence change creates a premature translational stop signal (p.Leu348Valfs*53) in the SLC37A4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 82 amino acid(s) of the SLC37A4 protein. This variant is present in population databases (rs80356491, gnomAD 0.04%). This premature translational stop signal has been observed in individuals with glycogen storage disease (PMID: 10923042, 15953877, 22899091, 26913919, 28224773). ClinVar contains an entry for this variant (Variation ID: 6926). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Mar 01, 1999)
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no assertion criteria provided
Method: literature only
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GLYCOGEN STORAGE DISEASE Ib
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000027534.2
First in ClinVar: Apr 04, 2013 Last updated: May 10, 2014 |
Comment on evidence:
In 2 families, Veiga-da-Cunha et al. (1998) found that patients with glycogen storage disease Ib (GSD1B; 232220) were homozygous for a 2-bp deletion (1211-1212delCT) in … (more)
In 2 families, Veiga-da-Cunha et al. (1998) found that patients with glycogen storage disease Ib (GSD1B; 232220) were homozygous for a 2-bp deletion (1211-1212delCT) in the G6PT1 gene, resulting in a change in reading frame after ala347. This common frameshift mutation was reported by Veiga-da-Cunha et al. (1998) to be present in 8 GSD Ib patients. In a Turkish patient with GSD Ic (GSD1C; 232240), Janecke et al. (1999) identified the same mutation. Thus, GSD Ib and Ic result from the same mutation of the same gene. (less)
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Pathogenic
(Mar 01, 1999)
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no assertion criteria provided
Method: literature only
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GLYCOGEN STORAGE DISEASE Ic
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000027535.2
First in ClinVar: Apr 04, 2013 Last updated: May 10, 2014 |
Comment on evidence:
In 2 families, Veiga-da-Cunha et al. (1998) found that patients with glycogen storage disease Ib (GSD1B; 232220) were homozygous for a 2-bp deletion (1211-1212delCT) in … (more)
In 2 families, Veiga-da-Cunha et al. (1998) found that patients with glycogen storage disease Ib (GSD1B; 232220) were homozygous for a 2-bp deletion (1211-1212delCT) in the G6PT1 gene, resulting in a change in reading frame after ala347. This common frameshift mutation was reported by Veiga-da-Cunha et al. (1998) to be present in 8 GSD Ib patients. In a Turkish patient with GSD Ic (GSD1C; 232240), Janecke et al. (1999) identified the same mutation. Thus, GSD Ib and Ic result from the same mutation of the same gene. (less)
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Pathogenic
(Feb 03, 2020)
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no assertion criteria provided
Method: clinical testing
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Glycogen storage disease type Ib
Affected status: unknown
Allele origin:
germline
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Natera, Inc.
Accession: SCV002078640.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
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not provided
(-)
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no classification provided
Method: literature only
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Glucose-6-phosphate transport defect
Affected status: yes
Allele origin:
germline
|
GeneReviews
Accession: SCV000040885.3
First in ClinVar: Apr 04, 2013 Last updated: Oct 01, 2022 |
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Germline Functional Evidence
Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for 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 functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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protein truncation
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Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
Accession: SCV002098318.1
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Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Glycogen Storage Disease Type I. | Adam MP | - | 2021 | PMID: 20301489 |
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib. | Choi R | Annals of laboratory medicine | 2017 | PMID: 28224773 |
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing. | Vega AI | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 26913919 |
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity. | Melis D | Italian journal of pediatrics | 2014 | PMID: 24646511 |
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. | Wang J | Genetics in medicine : official journal of the American College of Medical Genetics | 2013 | PMID: 22899091 |
A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b. | Han SH | Journal of Korean medical science | 2005 | PMID: 15953877 |
Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter. | Chen LY | The Journal of biological chemistry | 2000 | PMID: 10940311 |
Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. | Santer R | Human mutation | 2000 | PMID: 10923042 |
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. | Veiga-da-Cunha M | European journal of human genetics : EJHG | 1999 | PMID: 10482962 |
Molecular diagnosis of type 1c glycogen storage disease. | Janecke AR | Human genetics | 1999 | PMID: 10323254 |
Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. | Hiraiwa H | The Journal of biological chemistry | 1999 | PMID: 10026167 |
Structure and mutation analysis of the glycogen storage disease type 1b gene. | Marcolongo P | FEBS letters | 1998 | PMID: 9781688 |
A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. | Veiga-da-Cunha M | American journal of human genetics | 1998 | PMID: 9758626 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SLC37A4 | - | - | - | - |
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Text-mined citations for rs80356491 ...
HelpRecord last updated Apr 20, 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.