NM_003060.3(SLC22A5):c.43G>T (p.Gly15Trp) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 16, 2014
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:: RCV000186150.1

Allele description

NM_003060.3(SLC22A5):c.43G>T (p.Gly15Trp)

Gene:

SLC22A5:solute carrier family 22 member 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.1

Genomic location:

Preferred name:

NM_003060.3(SLC22A5):c.43G>T (p.Gly15Trp)

HGVS:

NC_000005.10:g.132370015G>T
NG_008982.1:g.5307G>T
NM_003060.3:c.43G>T
NP_003051.1:p.Gly15Trp
NC_000005.9:g.131705707G>T
NM_003060.2:c.43G>T
O76082:p.Gly15Trp
p.G15W:GGG>TGG

Protein change:

G15W; GLY15TRP

Links:

UniProtKB: O76082#VAR_064110; OMIM: 603377.0022; dbSNP: rs267607052

NCBI 1000 Genomes Browser:

rs267607052

Molecular consequence:

NM_003060.3:c.43G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:: MedGen: CN221809

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000239176	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jan 16, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000239176

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jan 16, 2014)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000239176.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The G15W missense mutation in the SLC22A5 gene has been reported previously inassociation with primary/systemic carnitine deficiency (PCD) in an Indian woman who was apparently homozygous for the G15W mutation who had an unaffected infant that was identified with low free carnitine levels by newborn screening (El-Hattab et al., 2010).The variant is found in SLC22A5 panel(s).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 26, 2016

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