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NM_005138.3(SCO2):c.2T>C (p.Met1Thr)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: May 26, 2020)
Accession:
VCV000800843.2
Variation ID:
800843
Description:
single nucleotide variant
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NM_005138.3(SCO2):c.2T>C (p.Met1Thr)

Allele ID
788946
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50524410 (GRCh38) GRCh38 UCSC
22: 50962839 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.50962839A>G
NC_000022.11:g.50524410A>G
NM_152299.4:c.*1035A>G MANE Select 3 prime UTR
... more HGVS
Protein change
M1T
Other names
-
Canonical SPDI
NC_000022.11:50524409:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1603441682
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter - RCV000985024.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NCAPH2 - - GRCh38
GRCh37
3 200
SCO2 - - GRCh38
GRCh37
7 361

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
Allele origin: germline
Pathology and Clinical Laboratory Medicine,King Fahad Medical City
Accession: SCV001438821.1
Submitted: (May 26, 2020)
Evidence details
Pathogenic
(Aug 25, 2019)
no assertion criteria provided
Method: clinical testing
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
Allele origin: germline
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City
Accession: SCV001132957.1
Submitted: (Sep 26, 2019)
Evidence details

Functional evidence

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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 this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1603441682...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 14, 2021