U.S. flag

An official website of the United States government

NM_001164277.2(SLC37A4):c.58G>T (p.Gly20Cys) AND Glucose-6-phosphate transport defect

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 21, 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:
RCV001983623.3

Allele description

NM_001164277.2(SLC37A4):c.58G>T (p.Gly20Cys)

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.58G>T (p.Gly20Cys)
HGVS:
  • NC_000011.10:g.119029312C>A
  • NG_013331.1:g.6595G>T
  • NM_001164277.2:c.58G>TMANE SELECT
  • NM_001164278.2:c.58G>T
  • NM_001164279.2:c.-172+80G>T
  • NM_001164280.2:c.58G>T
  • NM_001467.6:c.58G>T
  • NP_001157749.1:p.Gly20Cys
  • NP_001157750.1:p.Gly20Cys
  • NP_001157752.1:p.Gly20Cys
  • NP_001458.1:p.Gly20Cys
  • LRG_187:g.6595G>T
  • NC_000011.9:g.118900022C>A
Protein change:
G20C
Links:
dbSNP: rs2134644210
NCBI 1000 Genomes Browser:
rs2134644210
Molecular consequence:
  • NM_001164279.2:c.-172+80G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001164277.2:c.58G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164278.2:c.58G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164280.2:c.58G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001467.6:c.58G>T - 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

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002276554Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Nov 21, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 Invitae, SCV002276554.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 20 of the SLC37A4 protein (p.Gly20Cys).

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

Last Updated: Apr 15, 2024