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NM_003060.4(SLC22A5):c.1055T>G (p.Met352Arg) AND Renal carnitine transport defect

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Apr 12, 2023
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:
RCV000815094.11

Allele description [Variation Report for NM_003060.4(SLC22A5):c.1055T>G (p.Met352Arg)]

NM_003060.4(SLC22A5):c.1055T>G (p.Met352Arg)

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.1055T>G (p.Met352Arg)
HGVS:
  • NC_000005.10:g.132390692T>G
  • NG_008982.2:g.25989T>G
  • NM_001308122.2:c.1127T>G
  • NM_003060.4:c.1055T>GMANE SELECT
  • NP_001295051.1:p.Met376Arg
  • NP_003051.1:p.Met352Arg
  • NC_000005.9:g.131726384T>G
  • NM_003060.3:c.1055T>G
Protein change:
M352R
Links:
dbSNP: rs1275349783
NCBI 1000 Genomes Browser:
rs1275349783
Molecular consequence:
  • NM_001308122.2:c.1127T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003060.4:c.1055T>G - 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

Recent activity

  • Marburg Virus Disease
    Marburg Virus Disease
    An RNA virus infection of rhesus, vervet, and squirrel monkeys transmissible to man.<br/>Year introduced: 1975
    MeSH
  • D008379 (1)
    MeSH

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000955537Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Apr 12, 2023)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV001462819Natera, Inc.
no assertion criteria provided
Uncertain significance
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Citations

PubMed

Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter.

Wu X, Huang W, Prasad PD, Seth P, Rajan DP, Leibach FH, Chen J, Conway SJ, Ganapathy V.

J Pharmacol Exp Ther. 1999 Sep;290(3):1482-92.

PubMed [citation]
PMID:
10454528
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000955537.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. 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. Experimental studies have shown that this missense change affects SLC22A5 function (PMID: 10454528, 10559218). ClinVar contains an entry for this variant (Variation ID: 658296). This variant has not been reported in the literature in individuals affected with SLC22A5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 352 of the SLC22A5 protein (p.Met352Arg).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Natera, Inc., SCV001462819.1

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

Last Updated: Oct 8, 2024