NM_005138.3(SCO2):c.341G>A (p.Arg114His) AND Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 28, 2017
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:: RCV001149870.4

Allele description [Variation Report for NM_005138.3(SCO2):c.341G>A (p.Arg114His)]

NM_005138.3(SCO2):c.341G>A (p.Arg114His)

Genes:

NCAPH2:non-SMC condensin II complex subunit H2 [Gene - OMIM - HGNC]
SCO2:synthesis of cytochrome C oxidase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

Preferred name:

NM_005138.3(SCO2):c.341G>A (p.Arg114His)

HGVS:

NC_000022.11:g.50524071C>T
NG_011860.1:g.11015G>A
NG_016235.1:g.7369G>A
NG_021419.1:g.20856C>T
NM_001169109.2:c.341G>A
NM_001169110.1:c.341G>A
NM_001169111.2:c.341G>A
NM_001185011.2:c.*696C>T
NM_005138.3:c.341G>AMANE SELECT
NM_152299.4:c.*696C>TMANE SELECT
NP_001162580.1:p.Arg114His
NP_001162581.1:p.Arg114His
NP_001162582.1:p.Arg114His
NP_005129.2:p.Arg114His
NP_005129.2:p.Arg114His
LRG_727:g.11015G>A
NC_000022.10:g.50962500C>T
NM_005138.2:c.341G>A
O43819:p.Arg114His

Protein change:

R114H; ARG114HIS

Links:

UniProtKB: O43819#VAR_070053; OMIM: 604272.0009; dbSNP: rs145100473

NCBI 1000 Genomes Browser:

rs145100473

Molecular consequence:

NM_001185011.2:c.*696C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_152299.4:c.*696C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001169109.2:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001169110.1:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001169111.2:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005138.3:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (MC4DN2)
Synonyms:: CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
Identifiers:: MONDO: MONDO:0011451; MedGen: C5399977; Orphanet: 1561; OMIM: 604377

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001310868	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 28, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 23643385, 25959673 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001310868

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 28, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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

Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.

Tran-Viet KN, Powell C, Barathi VA, Klemm T, Maurer-Stroh S, Limviphuvadh V, Soler V, Ho C, Yanovitch T, Schneider G, Li YJ, Nading E, Metlapally R, Saw SM, Goh L, Rozen S, Young TL.

Am J Hum Genet. 2013 May 2;92(5):820-6. doi: 10.1016/j.ajhg.2013.04.005.

PubMed [citation]

PMID:: 23643385
PMCID:: PMC3644634

Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.

Pacheu-Grau D, Bareth B, Dudek J, Juris L, Vögtle FN, Wissel M, Leary SC, Dennerlein S, Rehling P, Deckers M.

Cell Metab. 2015 Jun 2;21(6):823-33. doi: 10.1016/j.cmet.2015.04.012. Epub 2015 May 7.

PubMed [citation]

PMID:: 25959673

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001310868.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#	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: Sep 29, 2024

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