NM_001164277.2(SLC37A4):c.29G>A (p.Arg10His) AND Glucose-6-phosphate transport defect

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 20, 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:: RCV001245875.4

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.29G>A (p.Arg10His)]

NM_001164277.2(SLC37A4):c.29G>A (p.Arg10His)

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.29G>A (p.Arg10His)

HGVS:

NC_000011.10:g.119029341C>T
NG_013331.1:g.6566G>A
NM_001164277.2:c.29G>AMANE SELECT
NM_001164278.2:c.29G>A
NM_001164279.2:c.-172+51G>A
NM_001164280.2:c.29G>A
NM_001467.6:c.29G>A
NP_001157749.1:p.Arg10His
NP_001157749.1:p.Arg10His
NP_001157750.1:p.Arg10His
NP_001157752.1:p.Arg10His
NP_001458.1:p.Arg10His
LRG_187t1:c.29G>A
LRG_187:g.6566G>A
LRG_187p1:p.Arg10His
NC_000011.9:g.118900051C>T
NC_000011.9:g.118900051C>T
NM_001164277.1:c.29G>A
NM_001164277.2:c.29G>A
NM_001467.5:c.29G>A

Protein change:

R10H

Links:

dbSNP: rs782500443

NCBI 1000 Genomes Browser:

rs782500443

Molecular consequence:

NM_001164279.2:c.-172+51G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001164277.2:c.29G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001164278.2:c.29G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001164280.2:c.29G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001467.6:c.29G>A - 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

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001419197	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Apr 20, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001467493	Natera, Inc.	no assertion criteria provided	Uncertain significance (Apr 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001419197

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Apr 20, 2022)

germline

clinical testing

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

SCV001467493

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Apr 16, 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, SCV001419197.2

#	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 arginine, which is basic and polar, with histidine, which is basic and polar, at codon 10 of the SLC37A4 protein (p.Arg10His). This variant is present in population databases (rs782500443, gnomAD 0.01%), including at least one homozygous and/or hemizygous individual. 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: 970320). 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., SCV001467493.1

#	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

ClinVar

Relating variation to medicine