NM_001164277.2(SLC37A4):c.1022C>T (p.Ser341Phe) AND Glucose-6-phosphate transport defect

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jul 1, 2020
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:: RCV001309019.4

Allele description [Variation Report for NM_001164277.2(SLC37A4):c.1022C>T (p.Ser341Phe)]

NM_001164277.2(SLC37A4):c.1022C>T (p.Ser341Phe)

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.1022C>T (p.Ser341Phe)

HGVS:

NC_000011.10:g.119025292G>A
NG_013331.1:g.10614C>T
NM_001164277.2:c.1022C>TMANE SELECT
NM_001164278.2:c.1088C>T
NM_001164279.2:c.803C>T
NM_001164280.2:c.1022C>T
NM_001467.6:c.1022C>T
NP_001157749.1:p.Ser341Phe
NP_001157750.1:p.Ser363Phe
NP_001157751.1:p.Ser268Phe
NP_001157752.1:p.Ser341Phe
NP_001458.1:p.Ser341Phe
LRG_187:g.10614C>T
NC_000011.9:g.118896002G>A

Protein change:

S268F

Links:

dbSNP: rs938040106

NCBI 1000 Genomes Browser:

rs938040106

Molecular consequence:

NM_001164277.2:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001164278.2:c.1088C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001164279.2:c.803C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001164280.2:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001467.6:c.1022C>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

Chromosome neighbors for GEO Profiles (Select 65020598) (20)
GEO Profiles

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
SCV001498500	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 1, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002078663	Natera, Inc.	no assertion criteria provided	Uncertain significance (Jul 14, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001498500

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 1, 2020)

germline

clinical testing

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

SCV002078663

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Jul 14, 2021)

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, SCV001498500.1

#	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 serine with phenylalanine at codon 341 of the SLC37A4 protein (p.Ser341Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. 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.

#	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., SCV002078663.1

#	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