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NM_003060.4(SLC22A5):c.686T>C (p.Ile229Thr) AND Renal carnitine transport defect

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 3, 2022
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:
RCV002286627.2

Allele description [Variation Report for NM_003060.4(SLC22A5):c.686T>C (p.Ile229Thr)]

NM_003060.4(SLC22A5):c.686T>C (p.Ile229Thr)

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.686T>C (p.Ile229Thr)
Other names:
p.Ile229Thr
HGVS:
  • NC_000005.10:g.132385361T>C
  • NG_008982.2:g.20658T>C
  • NM_001308122.2:c.758T>C
  • NM_003060.4:c.686T>CMANE SELECT
  • NP_001295051.1:p.Ile253Thr
  • NP_003051.1:p.Ile229Thr
  • NC_000005.9:g.131721053T>C
Protein change:
I229T
Molecular consequence:
  • NM_001308122.2:c.758T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003060.4:c.686T>C - 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
SCV002576591Giacomini Lab, University of California, San Francisco
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 3, 2022) 		germline, not applicableresearch, in vitro

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Giacomini Lab, University of California, San Francisco, SCV002576591.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
2not providednot providednot providednot providedin vitro PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided
2not applicablenot applicablenot providednot providedassert pathogenicitynot providednot providednot providednot provided

Last Updated: Nov 29, 2022