NM_003060.4(SLC22A5):c.43_45dup (p.Gly15dup) AND Renal carnitine transport defect

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 28, 2017
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:: RCV000666266.1

Allele description [Variation Report for NM_003060.4(SLC22A5):c.43_45dup (p.Gly15dup)]

NM_003060.4(SLC22A5):c.43_45dup (p.Gly15dup)

Gene:

SLC22A5:solute carrier family 22 member 5 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

5q31.1

Genomic location:

Preferred name:

NM_003060.4(SLC22A5):c.43_45dup (p.Gly15dup)

HGVS:

NC_000005.10:g.132370015_132370017dup
NG_008982.2:g.5312_5314dup
NM_001308122.2:c.43_45dup
NM_003060.4:c.43_45dupMANE SELECT
NP_001295051.1:p.Gly15dup
NP_003051.1:p.Gly15dup
NC_000005.9:g.131705707_131705709dup
NM_003060.3:c.43_45dupGGG

Links:

dbSNP: rs1554085901

NCBI 1000 Genomes Browser:

rs1554085901

Molecular consequence:

NM_001308122.2:c.43_45dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_003060.4:c.43_45dup - inframe_insertion - [Sequence Ontology: SO:0001821]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000790528	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Mar 28, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000790528

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Mar 28, 2017)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000790528.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 29, 2022

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