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NM_001164277.2(SLC37A4):c.217C>T (p.Gln73Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 21, 2020
Accession:
VCV000917662.2
Variation ID:
917662
Description:
single nucleotide variant
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NM_001164277.2(SLC37A4):c.217C>T (p.Gln73Ter)

Allele ID
905925
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.3
Genomic location
11: 119028358 (GRCh38) GRCh38 UCSC
11: 118899068 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_187:g.7549C>T
LRG_187t1:c.217C>T LRG_187p1:p.Gln73Ter
NC_000011.9:g.118899068G>A
... more HGVS
Protein change
Q73*
Other names
-
Canonical SPDI
NC_000011.10:119028357:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555191604
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Sep 21, 2020 RCV001174784.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC37A4 - - GRCh38
GRCh38
GRCh37
687 720

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 27, 2020)
criteria provided, single submitter
Method: clinical testing
Glucose-6-phosphate transport defect
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001338118.1
Submitted: (Apr 29, 2020)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: SLC37A4 c.217C>T (p.Gln73X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(Sep 21, 2020)
criteria provided, single submitter
Method: clinical testing
Glucose-6-phosphate transport defect
Allele origin: germline
Invitae
Accession: SCV001578029.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Gln73*) in the SLC37A4 gene. It is expected to result in an absent or disrupted 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
The SLC37 family of sugar-phosphate/phosphate exchangers. Chou JY Current topics in membranes 2014 PMID: 24745989
Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R. Kojima K Molecular genetics and metabolism 2004 PMID: 15059622
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
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

Text-mined citations for rs1555191604...

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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 Dec 04, 2021