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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:
RCV002835096.3

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003221972Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jul 15, 2022) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 Labcorp Genetics (formerly Invitae), Labcorp, SCV003221972.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical 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).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024