NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val) AND Glucose-6-phosphate transport defect

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Oct 9, 2022
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:: RCV000806060.7

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val)]

NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

Preferred name:

NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val)

HGVS:

NC_000011.10:g.119025041T>C
NG_013331.1:g.10865A>G
NM_001164277.2:c.1159A>GMANE SELECT
NM_001164278.2:c.1225A>G
NM_001164279.2:c.940A>G
NM_001164280.2:c.1159A>G
NM_001467.6:c.1159A>G
NP_001157749.1:p.Ile387Val
NP_001157749.1:p.Ile387Val
NP_001157750.1:p.Ile409Val
NP_001157751.1:p.Ile314Val
NP_001157752.1:p.Ile387Val
NP_001458.1:p.Ile387Val
LRG_187t1:c.1159A>G
LRG_187:g.10865A>G
LRG_187p1:p.Ile387Val
NC_000011.9:g.118895751T>C
NM_001164277.1:c.1159A>G
NM_001467.5:c.1159A>G

Protein change:

I314V

Links:

dbSNP: rs782480303

NCBI 1000 Genomes Browser:

rs782480303

Molecular consequence:

NM_001164277.2:c.1159A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001164278.2:c.1225A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001164279.2:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001164280.2:c.1159A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001467.6:c.1159A>G - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

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SAMEA13011150 (3)
SRA
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 isoform X2 [Rattus norveg...
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 isoform X2 [Rattus norvegicus]
gi|564365608|ref|XP_006243902.1|

Protein
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 isoform X4 [Rattus norveg...
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 isoform X4 [Rattus norvegicus]
gi|1958797634|ref|XP_038937945.1|

Protein
PREDICTED: Mus musculus sphingomyelin synthase 1 (Sgms1), transcript variant X6,...
PREDICTED: Mus musculus sphingomyelin synthase 1 (Sgms1), transcript variant X6, mRNA
gi|1907132029|ref|XM_006526818.5|

Nucleotide
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 [Rattus norvegicus]
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 [Rattus norvegicus]
gi|9506969|ref|NP_062206.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000946040	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 9, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002078574	Natera, Inc.	no assertion criteria provided	Uncertain significance (Feb 21, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000946040

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 9, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002078574

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Feb 21, 2020)

germline

clinical testing

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000946040.4

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

Description

This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 387 of the SLC37A4 protein (p.Ile387Val). This variant is present in population databases (rs782480303, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with SLC37A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 650831). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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

From Natera, Inc., SCV002078574.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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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