U.S. flag

An official website of the United States government

NM_014251.3(SLC25A13):c.1230+1G>A AND Citrin deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 20, 2023
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:
RCV003740920.2

Allele description [Variation Report for NM_014251.3(SLC25A13):c.1230+1G>A]

NM_014251.3(SLC25A13):c.1230+1G>A

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.1230+1G>A
HGVS:
  • NC_000007.14:g.96171471C>T
  • NG_012247.2:g.155677G>A
  • NM_001160210.2:c.1233+1G>A
  • NM_014251.3:c.1230+1G>AMANE SELECT
  • NC_000007.13:g.95800783C>T
Molecular consequence:
  • NM_001160210.2:c.1233+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_014251.3:c.1230+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Citrin deficiency
Identifiers:
MONDO: MONDO:0016602; MedGen: C1997910

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004540449Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 20, 2023) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Six cases of citrin deficiency in Korea.

Ko JM, Kim GH, Kim JH, Kim JY, Choi JH, Ushikai M, Saheki T, Kobayashi K, Yoo HW.

Int J Mol Med. 2007 Dec;20(6):809-15.

PubMed [citation]
PMID:
17982687

[A case of adult-onset type II citrullinemia triggered by entering a nursing home with a good response to medium-chain triglyceride oil therapy].

Koda K, Akaogi M, Sekiya H, Otsuka Y, Yoneda Y, Kikuchi A, Kure S, Kageyama Y.

Rinsho Shinkeigaku. 2021 Mar 25;61(3):200-203. doi: 10.5692/clinicalneurol.cn-001514. Epub 2021 Feb 23. Japanese.

PubMed [citation]
PMID:
33627582
See all PubMed Citations (7)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004540449.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Disruption of this splice site has been observed in individuals with citrin deficiency (PMID: 17982687, 33627582). This sequence change affects a donor splice site in intron 12 of the SLC25A13 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SLC25A13 are known to be pathogenic (PMID: 10369257, 14680984, 27405544).

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

Last Updated: Sep 29, 2024