NM_003060.4(SLC22A5):c.1225C>G (p.Leu409Val) AND Decreased circulating carnitine concentration

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 10, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001274338.2

Allele description [Variation Report for NM_003060.4(SLC22A5):c.1225C>G (p.Leu409Val)]

NM_003060.4(SLC22A5):c.1225C>G (p.Leu409Val)

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_003060.4(SLC22A5):c.1225C>G (p.Leu409Val)

HGVS:

NC_000005.10:g.132390862C>G
NG_008982.2:g.26159C>G
NM_001308122.2:c.1297C>G
NM_003060.4:c.1225C>GMANE SELECT
NP_001295051.1:p.Leu433Val
NP_003051.1:p.Leu409Val
NC_000005.9:g.131726554C>G
NM_003060.3:c.1225C>G

Protein change:

L409V

Links:

dbSNP: rs573330330

NCBI 1000 Genomes Browser:

rs573330330

Molecular consequence:

NM_001308122.2:c.1297C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003060.4:c.1225C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Decreased circulating carnitine concentration
Synonyms:: Decreased plasma carnitine
Identifiers:: MedGen: C5848230; Human Phenotype Ontology: HP:0003234

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001458337	Natera, Inc.	no assertion criteria provided	Uncertain significance (Mar 10, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001458337

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Mar 10, 2020)

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

Details of each submission

From Natera, Inc., SCV001458337.1

#	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

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