NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 31, 2018
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:: RCV000764738.3

Allele description [Variation Report for NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)]

NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)

Gene:

SLC25A13:solute carrier family 25 member 13 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.3

Genomic location:

Preferred name:

NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)

Other names:

p.V637A:GTT>GCT

HGVS:

NC_000007.14:g.96121309A>G
NG_012247.2:g.205839T>C
NM_001160210.2:c.1913T>C
NM_014251.3:c.1910T>CMANE SELECT
NP_001153682.1:p.Val638Ala
NP_055066.1:p.Val637Ala
NC_000007.13:g.95750621A>G
NM_014251.2:c.1910T>C
NR_027662.2:n.1936T>C

Protein change:

V637A

Links:

dbSNP: rs148962110

NCBI 1000 Genomes Browser:

rs148962110

Molecular consequence:

NM_001160210.2:c.1913T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_014251.3:c.1910T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_027662.2:n.1936T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Citrullinemia type II
Synonyms:: Citrullinemia type 2
Identifiers:: MONDO: MONDO:0016603; MedGen: C1863844

Name:: Neonatal intrahepatic cholestasis due to citrin deficiency
Synonyms:: Neonatal-onset citrullinemia type II; Neonatal intrahepatic cholestasis caused by citrin deficiency; Neonatal-onset citrullinemia type 2
Identifiers:: MONDO: MONDO:0011601; MedGen: C1853942; Orphanet: 247598; OMIM: 605814

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000895875	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 31, 2018)	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

SCV000895875

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 31, 2018)

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

PMC

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.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]

PMCID:: PMC4544753
PMID:: 25741868
DOI:: 10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000895875.1

#	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: Oct 13, 2024

ClinVar

Relating variation to medicine