NM_001164277.2(SLC37A4):c.1099G>C (p.Ala367Pro) AND Glucose-6-phosphate transport defect

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 15, 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:: RCV002835096.2

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.1099G>C (p.Ala367Pro)]

NM_001164277.2(SLC37A4):c.1099G>C (p.Ala367Pro)

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.1099G>C (p.Ala367Pro)

HGVS:

NC_000011.10:g.119025215C>G
NG_013331.1:g.10691G>C
NM_001164277.2:c.1099G>CMANE SELECT
NM_001164278.2:c.1165G>C
NM_001164279.2:c.880G>C
NM_001164280.2:c.1099G>C
NM_001467.6:c.1099G>C
NP_001157749.1:p.Ala367Pro
NP_001157749.1:p.Ala367Pro
NP_001157750.1:p.Ala389Pro
NP_001157751.1:p.Ala294Pro
NP_001157752.1:p.Ala367Pro
NP_001458.1:p.Ala367Pro
NP_001458.1:p.Ala367Pro
LRG_187t1:c.1099G>C
LRG_187:g.10691G>C
LRG_187p1:p.Ala367Pro
NC_000011.9:g.118895925C>G
NM_001164277.1:c.1099G>C
NM_001467.4:c.1099G>C

Protein change:

A294P

Molecular consequence:

NM_001164277.2:c.1099G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001164278.2:c.1165G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001164279.2:c.880G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001164280.2:c.1099G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001467.6:c.1099G>C - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003221972	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 15, 2022)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 10923042, 12444104, 18835800, 32300528, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003221972

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 15, 2022)

germline

clinical testing

PubMed (5)
[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

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, Rischewski J, Block G, Kinner M, Wendel U, Schaub J, Schneppenheim R.

Hum Mutat. 2000 Aug;16(2):177.

PubMed [citation]

PMID:: 10923042

Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.

Chen LY, Pan CJ, Shieh JJ, Chou JY.

Hum Mol Genet. 2002 Dec 1;11(25):3199-207.

PubMed [citation]

PMID:: 12444104

See all PubMed Citations (5)

Details of each submission

From Invitae, SCV003221972.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

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. This variant disrupts the p.Ala367 amino acid residue in SLC37A4. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10923042, 12444104, 18835800, 32300528; SOURCE: 10518030). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with SLC37A4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 367 of the SLC37A4 protein (p.Ala367Pro).

#	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: Apr 15, 2024

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