NM_001003841.3(SLC6A19):c.1787_1788insG (p.Ile597fs) AND Neutral 1 amino acid transport defect

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 21, 2023
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:: RCV001171523.2

Allele description [Variation Report for NM_001003841.3(SLC6A19):c.1787_1788insG (p.Ile597fs)]

NM_001003841.3(SLC6A19):c.1787_1788insG (p.Ile597fs)

Gene:

SLC6A19:solute carrier family 6 member 19 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

5p15.33

Genomic location:

Preferred name:

NM_001003841.3(SLC6A19):c.1787_1788insG (p.Ile597fs)

HGVS:

NC_000005.10:g.1221786_1221787insG
NG_008282.1:g.25192_25193insG
NM_001003841.3:c.1787_1788insGMANE SELECT
NP_001003841.1:p.Ile597fs
NC_000005.9:g.1221901_1221902insG

Protein change:

I597fs

Links:

OMIM: 608893.0007; dbSNP: rs1746389144

NCBI 1000 Genomes Browser:

rs1746389144

Molecular consequence:

NM_001003841.3:c.1787_1788insG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Neutral 1 amino acid transport defect (HND)
Synonyms:: Hartnup disease; Hartnup disorder
Identifiers:: MONDO: MONDO:0009324; MedGen: C0018609; Orphanet: 2116; OMIM: 234500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001334308	OMIM	no assertion criteria provided	Pathogenic (Mar 21, 2023)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001334308

OMIM

no assertion criteria provided

Pathogenic
(Mar 21, 2023)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.

Cheon CK, Lee BH, Ko JM, Kim HJ, Yoo HW.

Pediatr Neurol. 2010 May;42(5):369-71. doi: 10.1016/j.pediatrneurol.2010.01.009. Review.

PubMed [citation]

PMID:: 20399395

Details of each submission

From OMIM, SCV001334308.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the 1-bp insertion (c.1787_1788insG) in the SLC6A19 gene that was found in compound heterozygous state in a child with Hartnup disorder (HND; 234500) by Cheon et al. (2010), see 608893.0006.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 26, 2023

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