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NM_003060.4(SLC22A5):c.794T>G (p.Met265Arg) AND Renal carnitine transport defect

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 10, 2019
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:
RCV001252960.2

Allele description [Variation Report for NM_003060.4(SLC22A5):c.794T>G (p.Met265Arg)]

NM_003060.4(SLC22A5):c.794T>G (p.Met265Arg)

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.794T>G (p.Met265Arg)
HGVS:
  • NC_000005.10:g.132385469T>G
  • NG_008982.2:g.20766T>G
  • NM_001308122.2:c.866T>G
  • NM_003060.4:c.794T>GMANE SELECT
  • NP_001295051.1:p.Met289Arg
  • NP_003051.1:p.Met265Arg
  • NC_000005.9:g.131721161T>G
  • NM_003060.3:c.794T>G
  • p.Met265Arg
Protein change:
M265R
Links:
dbSNP: rs1752495086
NCBI 1000 Genomes Browser:
rs1752495086
Molecular consequence:
  • NM_001308122.2:c.866T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003060.4:c.794T>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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001427025Clinical Genomics Laboratory, Stanford Medicine
no assertion criteria provided
Uncertain significance
(Jan 10, 2019) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Clinical Genomics Laboratory, Stanford Medicine, SCV001427025.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testingnot provided

Description

The p.Met265Arg variant in the SLC22A5 gene has not been previously reported in association with disease. The variant was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). The Met amino acid at position 265 is not evolutionarily conserved. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, the significance of the p.Met265Arg variant is uncertain. Additional information is needed to resolve the significance of this variant. [ACMG evidence codes used: PM2]

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

Last Updated: Jul 7, 2024