ClinVar Genomic variation as it relates to human health
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_005138.3(SCO2):c.418G>A (p.Glu140Lys)
Variation ID: 5681 Accession: VCV000005681.37
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 22q13.33 22: 50523994 (GRCh38) [ NCBI UCSC ] 22: 50962423 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jun 8, 2013 Apr 15, 2024 Jan 29, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_005138.3:c.418G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_005129.2:p.Glu140Lys missense NM_152299.4:c.*619C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
3 prime UTR NM_001169109.2:c.418G>A NP_001162580.1:p.Glu140Lys missense NM_001169110.1:c.418G>A NP_001162581.1:p.Glu140Lys missense NM_001169111.2:c.418G>A NP_001162582.1:p.Glu140Lys missense NM_001185011.2:c.*619C>T 3 prime UTR NC_000022.11:g.50523994C>T NC_000022.10:g.50962423C>T NG_011860.1:g.11092G>A NG_016235.1:g.7446G>A NG_021419.1:g.20779C>T LRG_727:g.11092G>A O43819:p.Glu140Lys - Protein change
- E140K
- Other names
- SCO2, GLU140LYS (rs74315511)
- Canonical SPDI
- NC_000022.11:50523993:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD), exomes 0.00008
Exome Aggregation Consortium (ExAC) 0.00010
The Genome Aggregation Database (gnomAD) 0.00011
Trans-Omics for Precision Medicine (TOPMed) 0.00012
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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NCAPH2 | - | - |
GRCh38 GRCh37 |
37 | 546 | |
SCO2 | - | - |
GRCh38 GRCh37 |
4 | 867 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Jan 3, 2023 | RCV000006035.15 | |
Pathogenic (1) |
no assertion criteria provided
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May 2, 2013 | RCV000043619.4 | |
Pathogenic (8) |
criteria provided, multiple submitters, no conflicts
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Jan 29, 2024 | RCV000198477.25 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 1, 2017 | RCV000626777.3 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 18, 2021 | RCV001610286.2 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Aug 18, 2021)
|
criteria provided, single submitter
Method: clinical testing
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Tip-toe gait
Affected status: yes
Allele origin:
unknown
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Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino
Accession: SCV001832611.1
First in ClinVar: Sep 12, 2021 Last updated: Sep 12, 2021 |
Clinical Features:
Pes cavus (present) , Delayed speech and language development (present) , Clinodactyly (present) , limited range of motion of the upper ankle (present)
Age: 10-19 years
Sex: male
Method: Gene panel analysis
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Pathogenic
(Jan 03, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Affected status: yes
Allele origin:
unknown
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Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001429182.2
First in ClinVar: Aug 16, 2020 Last updated: Mar 04, 2023 |
Comment:
This variant was identified as homozygous._x000D_ Criteria applied: PM3_VSTR, PM1, PM2_SUP, PP3
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Pathogenic
(Jan 29, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV002238714.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 28, 2024 |
Comment:
This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 140 of the SCO2 protein … (more)
This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 140 of the SCO2 protein (p.Glu140Lys). This variant is present in population databases (rs74315511, gnomAD 0.02%). This missense change has been observed in individual(s) with cardioencephalomyopathy (PMID: 10545952, 15210538, 16765077, 23719228). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 5681). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SCO2 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jun 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV002496759.10
First in ClinVar: Apr 08, 2022 Last updated: Apr 15, 2024 |
Comment:
SCO2: PS1, PM2, PM3, PP3, PS3:Supporting
Number of individuals with the variant: 6
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Pathogenic
(Jan 01, 2017)
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criteria provided, single submitter
Method: clinical testing
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Seizure
Severe global developmental delay
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV000747480.1
First in ClinVar: May 12, 2018 Last updated: May 12, 2018 |
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Pathogenic
(Oct 23, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001446799.1
First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020 |
Clinical Features:
Dystonic disorder (present) , Increased circulating lactate concentration (present)
Sex: male
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Pathogenic
(Oct 17, 2019)
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criteria provided, single submitter
Method: clinical testing
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Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV001369322.2
First in ClinVar: Jul 04, 2020 Last updated: Dec 12, 2020 |
Comment:
This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PS3,PM2,PM3,PP3.
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Pathogenic
(Mar 24, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: yes
Allele origin:
germline
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AiLife Diagnostics, AiLife Diagnostics
Accession: SCV002502644.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 1
Secondary finding: no
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Pathogenic
(Sep 08, 2017)
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criteria provided, single submitter
Method: clinical testing
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Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
inherited
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Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
Accession: SCV000680367.3
First in ClinVar: Feb 08, 2018 Last updated: Dec 24, 2022 |
Number of individuals with the variant: 1
Clinical Features:
Increased circulating lactate concentration (present) , Encephalopathy (present) , Stridor (present) , Hepatic fibrosis (present) , Seizure (present)
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Pathogenic
(Apr 06, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000252240.14
First in ClinVar: Oct 11, 2015 Last updated: Mar 04, 2023 |
Comment:
Observed in homozygous state in unrelated patients referred for genetic testing at GeneDx with hypotonia, developmental delay, feeding issues, and tremor and not observed in … (more)
Observed in homozygous state in unrelated patients referred for genetic testing at GeneDx with hypotonia, developmental delay, feeding issues, and tremor and not observed in homozygous state in controls; Functional studies indicate that E140K may perturb the complex IV assembly process (Yang et al., 2010); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 12020273, 10749987, 34670123, 28798025, 23643385, 19879173, 25058219, 23719228, 11673586, 14994243, 16765077, 18924171, 23407777, 14970747, 15210538, 12538779, 22515166, 19837698, 16083427, 16326995, 10545952, 29351582, 27290639, 31623504, 29193756, 34426522, 34691145, 31589614, 32668698, 33098801) (less)
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Pathogenic
(May 02, 2013)
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no assertion criteria provided
Method: literature only
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MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000026217.3
First in ClinVar: Apr 04, 2013 Last updated: Aug 02, 2020 |
Comment on evidence:
Mitochondrial Complex IV Deficiency, Nuclear Type 2 In 3 unrelated patients with COX deficiency (MC4DN2; 604377), Papadopoulou et al. (1999) identified compound heterozygous mutations in … (more)
Mitochondrial Complex IV Deficiency, Nuclear Type 2 In 3 unrelated patients with COX deficiency (MC4DN2; 604377), Papadopoulou et al. (1999) identified compound heterozygous mutations in the SCO2 gene: all 3 carried a glu140-to-lys substitution, 2 carried the Q53X mutation (604272.0001), and 1 carried a c.1797C-T transition, resulting in a ser225-to-phe substitution (604272.0003). The patients had a fatal infantile cardioencephalomyopathy. Heart and skeletal muscle showed reductions in COX activity, with less severe reductions in liver and fibroblasts. Jaksch et al. (2001) reported 3 unrelated infants with a distinctive phenotype of Leigh-like syndrome, neurogenic muscular atrophy, and hypertrophic obstructive cardiomyopathy. The patients all had a homozygous missense mutation in SCO2: E140K. The disease onset and symptoms differed significantly from those in compound heterozygotes. MRI and muscle morphology demonstrated an age-dependent progression of disease with predominant involvement of white matter, late appearance of basal ganglia lesions, and neurogenic muscular atrophy in addition to the relatively late onset of hypertrophic cardiomyopathy. The copper uptake of cultured fibroblasts was significantly increased. Thus, the clinical spectrum of SCO2 deficiency includes the delayed development of hypertrophic obstructive cardiomyopathy and severe neurogenic muscular atrophy. The observed increased copper uptake in patients' fibroblasts indicated that the 1541G-A transition in SCO2 affects cellular copper metabolism. Salviati et al. (2002) reported an infant girl who presented at birth with generalized weakness, hypotonia, and lactic acidosis, and later developed fatal hypertrophic cardiomyopathy. Muscle biopsy showed neurogenic abnormalities and severe COX deficiency, and spinal cord examination showed severe loss of motor neurons and astrocytosis in the ventral horn, similar to Werdnig-Hoffmann disease (253300). Sequencing of the SCO2 gene revealed the E140K mutation and a 10-bp duplication of nucleotides 1302-1311 (604272.0006) that disrupted the reading frame of the mRNA and resulted in a truncated protein. The patient's father carried the E140K mutation and the mother carried the 10-bp duplication. Among 9 children with encephalomyopathy and/or cardiomyopathy associated with mutations in the SCO2 gene, Bohm et al. (2006) identified the 1541G-A transition in 83% of independent alleles. All patients died before age 2 years. Freisinger et al. (2004) reported a patient with the E140K SCO2 mutation in homozygosity who had resolution of severe hypertrophic cardiomyopathy due to subcutaneous application of copper histidine (Cu-his). Myopia 6 In an individual of European descent with high-grade myopia (MYP6; 608908), Tran-Viet et al. (2013) identified heterozygosity for a 418G-A transition in exon 2 of the SCO2 gene, resulting in the E140K substitution at a highly conserved residue in the functional catalytic domain. The mutation was not found in 1,000 control DNA samples. (less)
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Pathogenic
(May 02, 2013)
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no assertion criteria provided
Method: literature only
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MYOPIA 6
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000071644.2
First in ClinVar: Jun 08, 2013 Last updated: Aug 02, 2020 |
Comment on evidence:
Mitochondrial Complex IV Deficiency, Nuclear Type 2 In 3 unrelated patients with COX deficiency (MC4DN2; 604377), Papadopoulou et al. (1999) identified compound heterozygous mutations in … (more)
Mitochondrial Complex IV Deficiency, Nuclear Type 2 In 3 unrelated patients with COX deficiency (MC4DN2; 604377), Papadopoulou et al. (1999) identified compound heterozygous mutations in the SCO2 gene: all 3 carried a glu140-to-lys substitution, 2 carried the Q53X mutation (604272.0001), and 1 carried a c.1797C-T transition, resulting in a ser225-to-phe substitution (604272.0003). The patients had a fatal infantile cardioencephalomyopathy. Heart and skeletal muscle showed reductions in COX activity, with less severe reductions in liver and fibroblasts. Jaksch et al. (2001) reported 3 unrelated infants with a distinctive phenotype of Leigh-like syndrome, neurogenic muscular atrophy, and hypertrophic obstructive cardiomyopathy. The patients all had a homozygous missense mutation in SCO2: E140K. The disease onset and symptoms differed significantly from those in compound heterozygotes. MRI and muscle morphology demonstrated an age-dependent progression of disease with predominant involvement of white matter, late appearance of basal ganglia lesions, and neurogenic muscular atrophy in addition to the relatively late onset of hypertrophic cardiomyopathy. The copper uptake of cultured fibroblasts was significantly increased. Thus, the clinical spectrum of SCO2 deficiency includes the delayed development of hypertrophic obstructive cardiomyopathy and severe neurogenic muscular atrophy. The observed increased copper uptake in patients' fibroblasts indicated that the 1541G-A transition in SCO2 affects cellular copper metabolism. Salviati et al. (2002) reported an infant girl who presented at birth with generalized weakness, hypotonia, and lactic acidosis, and later developed fatal hypertrophic cardiomyopathy. Muscle biopsy showed neurogenic abnormalities and severe COX deficiency, and spinal cord examination showed severe loss of motor neurons and astrocytosis in the ventral horn, similar to Werdnig-Hoffmann disease (253300). Sequencing of the SCO2 gene revealed the E140K mutation and a 10-bp duplication of nucleotides 1302-1311 (604272.0006) that disrupted the reading frame of the mRNA and resulted in a truncated protein. The patient's father carried the E140K mutation and the mother carried the 10-bp duplication. Among 9 children with encephalomyopathy and/or cardiomyopathy associated with mutations in the SCO2 gene, Bohm et al. (2006) identified the 1541G-A transition in 83% of independent alleles. All patients died before age 2 years. Freisinger et al. (2004) reported a patient with the E140K SCO2 mutation in homozygosity who had resolution of severe hypertrophic cardiomyopathy due to subcutaneous application of copper histidine (Cu-his). Myopia 6 In an individual of European descent with high-grade myopia (MYP6; 608908), Tran-Viet et al. (2013) identified heterozygosity for a 418G-A transition in exon 2 of the SCO2 gene, resulting in the E140K substitution at a highly conserved residue in the functional catalytic domain. The mutation was not found in 1,000 control DNA samples. (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001928488.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001964684.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001739789.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region. | Ramensky VE | Frontiers in genetics | 2021 | PMID: 34691145 |
The genetic structure of the Turkish population reveals high levels of variation and admixture. | Kars ME | Proceedings of the National Academy of Sciences of the United States of America | 2021 | PMID: 34426522 |
Monogenic variants in dystonia: an exome-wide sequencing study. | Zech M | The Lancet. Neurology | 2020 | PMID: 33098801 |
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit. | Śmigiel R | Journal of clinical medicine | 2020 | PMID: 32668698 |
Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability. | Stojanovic JR | Journal of child neurology | 2020 | PMID: 31623504 |
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes. | Capalbo A | PLoS genetics | 2019 | PMID: 31589614 |
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. | Rebelo AP | Brain : a journal of neurology | 2018 | PMID: 29351582 |
Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytes. | Hallas T | Journal of cellular and molecular medicine | 2018 | PMID: 29193756 |
Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. | Miszalski-Jamka K | Circulation. Cardiovascular genetics | 2017 | PMID: 28798025 |
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. | Pronicka E | Journal of translational medicine | 2016 | PMID: 27290639 |
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. | Taylor RW | JAMA | 2014 | PMID: 25058219 |
The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation. | Pronicka E | Mitochondrion | 2013 | PMID: 23719228 |
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. | Tran-Viet KN | American journal of human genetics | 2013 | PMID: 23643385 |
Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review. | Gurgel-Giannetti J | JAMA neurology | 2013 | PMID: 23407777 |
Phenotypic consequences of a novel SCO2 gene mutation. | Verdijk RM | American journal of medical genetics. Part A | 2008 | PMID: 18924171 |
A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy. | Leary SC | Molecular genetics and metabolism | 2006 | PMID: 16765077 |
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. | Böhm M | Pediatric research | 2006 | PMID: 16326995 |
Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality. | Tay SK | Archives of neurology | 2004 | PMID: 15210538 |
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. | Tarnopolsky MA | American journal of medical genetics. Part A | 2004 | PMID: 14994243 |
Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper? | Freisinger P | Journal of inherited metabolic disease | 2004 | PMID: 14970747 |
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. | Salviati L | Archives of neurology | 2002 | PMID: 12020273 |
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. | Jaksch M | Neurology | 2001 | PMID: 11673586 |
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. | Papadopoulou LC | Nature genetics | 1999 | PMID: 10545952 |
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Text-mined citations for rs74315511 ...
HelpRecord last updated Apr 20, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.