NM_001164277.2(SLC37A4):c.71_74dup (p.Tyr25Ter) AND Glucose-6-phosphate transport defect

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 10, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001905428.4

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.71_74dup (p.Tyr25Ter)]

NM_001164277.2(SLC37A4):c.71_74dup (p.Tyr25Ter)

Gene:

SLC37A4:solute carrier family 37 member 4 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11q23.3

Genomic location:

Preferred name:

NM_001164277.2(SLC37A4):c.71_74dup (p.Tyr25Ter)

HGVS:

NC_000011.10:g.119029296_119029299dup
NG_013331.1:g.6608_6611dup
NM_001164277.2:c.71_74dupMANE SELECT
NM_001164278.2:c.71_74dup
NM_001164279.2:c.-172+93_-172+96dup
NM_001164280.2:c.71_74dup
NM_001467.6:c.71_74dup
NP_001157749.1:p.Tyr25Ter
NP_001157750.1:p.Tyr25Ter
NP_001157752.1:p.Tyr25Ter
NP_001458.1:p.Tyr25Ter
LRG_187:g.6608_6611dup
NC_000011.9:g.118900005_118900006insTAAT
NC_000011.9:g.118900006_118900009dup

Protein change:

Y25*

Links:

dbSNP: rs2134644045

NCBI 1000 Genomes Browser:

rs2134644045

Molecular consequence:

NM_001164279.2:c.-172+93_-172+96dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001164277.2:c.71_74dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001164278.2:c.71_74dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001164280.2:c.71_74dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001467.6:c.71_74dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Glucose-6-phosphate transport defect (GSD1B)
Synonyms:: Glycogen storage disease type 1B; GSD Ib
Identifiers:: MONDO: MONDO:0009288; MedGen: C0268146; Orphanet: 364; Orphanet: 79259; OMIM: 232220

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002134132	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 10, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 9758626, 10940311, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002134132

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 10, 2021)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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, Gerin I, Chen YT, de Barsy T, de Lonlay P, Dionisi-Vici C, Fenske CD, Lee PJ, Leonard JV, Maire I, McConkie-Rosell A, Schweitzer S, Vikkula M, Van Schaftingen E.

Am J Hum Genet. 1998 Oct;63(4):976-83.

PubMed [citation]

PMID:: 9758626
PMCID:: PMC1377500

Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter.

Chen LY, Lin B, Pan CJ, Hiraiwa H, Chou JY.

J Biol Chem. 2000 Nov 3;275(44):34280-6.

PubMed [citation]

PMID:: 10940311

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002134132.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with SLC37A4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr25*) in the SLC37A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC37A4 are known to be pathogenic (PMID: 9758626, 10940311).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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