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NM_001164277.2(SLC37A4):c.1025C>T (p.Ser342Leu) AND Glucose-6-phosphate transport defect

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 14, 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:
RCV002592244.2

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.1025C>T (p.Ser342Leu)]

NM_001164277.2(SLC37A4):c.1025C>T (p.Ser342Leu)

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.1025C>T (p.Ser342Leu)
HGVS:
  • NC_000011.10:g.119025289G>A
  • NG_013331.1:g.10617C>T
  • NM_001164277.2:c.1025C>TMANE SELECT
  • NM_001164278.2:c.1091C>T
  • NM_001164279.2:c.806C>T
  • NM_001164280.2:c.1025C>T
  • NM_001467.6:c.1025C>T
  • NP_001157749.1:p.Ser342Leu
  • NP_001157749.1:p.Ser342Leu
  • NP_001157750.1:p.Ser364Leu
  • NP_001157751.1:p.Ser269Leu
  • NP_001157752.1:p.Ser342Leu
  • NP_001458.1:p.Ser342Leu
  • NP_001458.1:p.Ser342Leu
  • LRG_187t1:c.1025C>T
  • LRG_187:g.10617C>T
  • LRG_187p1:p.Ser342Leu
  • NC_000011.9:g.118895999G>A
  • NM_001164277.1:c.1025C>T
  • NM_001467.4:c.1025C>T
Protein change:
S269L
Molecular consequence:
  • NM_001164277.2:c.1025C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164278.2:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164279.2:c.806C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001164280.2:c.1025C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001467.6:c.1025C>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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003498714Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Apr 14, 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 Labcorp Genetics (formerly Invitae), Labcorp, SCV003498714.1

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

Description

This sequence change replaces serine with leucine at codon 342 of the SLC37A4 protein (p.Ser342Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC37A4-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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

Last Updated: Sep 29, 2024