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NM_003060.4(SLC22A5):c.659A>T (p.Glu220Val) AND Renal carnitine transport defect

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 26, 2016
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:
RCV000225039.1

Allele description [Variation Report for NM_003060.4(SLC22A5):c.659A>T (p.Glu220Val)]

NM_003060.4(SLC22A5):c.659A>T (p.Glu220Val)

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.659A>T (p.Glu220Val)
HGVS:
  • NC_000005.10:g.132385334A>T
  • NG_008982.2:g.20631A>T
  • NM_001308122.2:c.731A>T
  • NM_003060.4:c.659A>TMANE SELECT
  • NP_001295051.1:p.Glu244Val
  • NP_003051.1:p.Glu220Val
  • NC_000005.9:g.131721026A>T
Protein change:
E220V
Links:
dbSNP: rs878853249
NCBI 1000 Genomes Browser:
rs878853249
Molecular consequence:
  • NM_001308122.2:c.731A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003060.4:c.659A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Renal carnitine transport defect (CDSP)
Synonyms:
CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF; Primary carnitine deficiency; Carnitine uptake defect; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008919; MedGen: C0342788; Orphanet: 158; OMIM: 212140

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000282029Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital
no assertion criteria provided
Likely pathogenic
(May 26, 2016) 		inheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital, SCV000282029.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 29, 2022