NM_001003841.3(SLC6A19):c.1545T>A (p.Asn515Lys) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 15, 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:: RCV002492372.1

Allele description [Variation Report for NM_001003841.3(SLC6A19):c.1545T>A (p.Asn515Lys)]

NM_001003841.3(SLC6A19):c.1545T>A (p.Asn515Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.33

Genomic location:

Preferred name:

NM_001003841.3(SLC6A19):c.1545T>A (p.Asn515Lys)

HGVS:

NC_000005.10:g.1221157T>A
NG_008282.1:g.24563T>A
NM_001003841.3:c.1545T>AMANE SELECT
NP_001003841.1:p.Asn515Lys
NC_000005.9:g.1221272T>A
NM_001003841.2:c.1545T>A

Protein change:

N515K

Links:

dbSNP: rs372599057

NCBI 1000 Genomes Browser:

rs372599057

Molecular consequence:

NM_001003841.3:c.1545T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hyperglycinuria
Synonyms:: GLYCINURIA WITH OR WITHOUT OXALATE NEPHROLITHIASIS; GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS; IMINOGLYCINURIA TYPE II
Identifiers:: MONDO: MONDO:0007677; MedGen: C0543541; OMIM: 138500; Human Phenotype Ontology: HP:0003108

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

Name:: Iminoglycinuria
Identifiers:: MONDO: MONDO:0009448; MedGen: C0268654; Orphanet: 42062; OMIM: 242600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002779071	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 15, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002779071

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 15, 2022)

unknown

clinical testing

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

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 Fulgent Genetics, Fulgent Genetics, SCV002779071.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	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: Sep 29, 2024

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