NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) AND Citrin deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 2, 2026
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:: RCV000344746.15

Allele description [Variation Report for NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)]

NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

7q21.3

Genomic location:

Preferred name:

NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)

Other names:

851del4; NC_000007.13:g.95818685_95818688del

HGVS:

NC_000007.13:g.95818684_95818687del
NC_000007.14:g.96189373_96189376del
NG_012247.2:g.137773_137776del
NM_001160210.2:c.852_855del
NM_014251.3:c.852_855delMANE SELECT
NP_001153682.1:p.Met285fs
NP_055066.1:p.Met285fs
NC_000007.13:g.95818684_95818687del
NC_000007.13:g.95818685_95818688del
NC_000007.13:g.95818685_95818688delATAC
NM_014251.2:c.851_854del
NM_014251.2:c.852_855delTATG
NM_014251.3:c.852_855delTATGMANE SELECT
NR_027662.2:n.878_881del

Protein change:

M285fs

Links:

OMIM: 603859.0001; dbSNP: rs80338720

Molecular consequence:

NM_001160210.2:c.852_855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014251.3:c.852_855del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_027662.2:n.878_881del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000646232	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Feb 2, 2026)	germline	clinical testing	PubMed (11) [See all records that cite these PMIDs] 14680984, 10369257, 12512993, 23022256, 23067347, 26852511, 27347070, 27405544, 27577219, 27578510, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000646232

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Feb 2, 2026)

germline

clinical testing

PubMed (11)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations.

Kobayashi K, Bang Lu Y, Xian Li M, Nishi I, Hsiao KJ, Choeh K, Yang Y, Hwu WL, Reichardt JK, Palmieri F, Okano Y, Saheki T.

Mol Genet Metab. 2003 Nov;80(3):356-9.

PubMed [citation]

PMID:: 14680984

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.

Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T.

Nat Genet. 1999 Jun;22(2):159-63.

PubMed [citation]

PMID:: 10369257

See all PubMed Citations (11)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000646232.11

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (11)

Description

This sequence change creates a premature translational stop signal (p.Met285Profs*2) in the SLC25A13 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC25A13 are known to be pathogenic (PMID: 10369257, 14680984, 27405544). This variant is present in population databases (rs569808959, gnomAD 0.5%). This premature translational stop signal has been observed in individual(s) with citrin deficiency (PMID: 10369257, 12512993, 23022256, 23067347, 26852511, 27347070, 27405544, 27577219, 27578510). It has also been observed to segregate with disease in related individuals. This variant is also known as c.851del4. ClinVar contains an entry for this variant (Variation ID: 225472). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Jun 27, 2026

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