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NC_012920.1:m.7965T>C

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Oct 3, 2017)
Last evaluated:
Mar 29, 2016
Accession:
VCV000440835.1
Variation ID:
440835
Description:
single nucleotide variant
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NC_012920.1:m.7965T>C

Allele ID
434458
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
-
Genomic location
MT: 7965 (GRCh38) GRCh38 UCSC
MT: 7965 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_012920.1:m.7965T>C YP_003024029.1:p.Phe127Ser
Protein change
F127S
Other names
MSCV_0000006
Canonical SPDI
NC_012920.1:7964:T:C
Functional consequence
unknown functional consequence
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
MSeqDR: the Mitochondrial Disease Sequence Data Resource Consortium: MSCV_0000006
dbSNP: rs1556423369
ClinGen: CA414794444
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 no assertion criteria provided Mar 29, 2016 RCV000509036.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MT-CO2 - - GRCh38 118 124

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 29, 2016)
no assertion criteria provided
Method: clinical testing
Cytochrome c Oxidase Deficiency
(Mitochondrial inheritance)
Allele origin: maternal
Bodamer Research Lab,Boston Children's Hospital
Accession: SCV000599993.1
Submitted: (Oct 03, 2017)
Evidence details

Functional evidence

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Functional consequence Method Result Submitter Supporting information
unknown functional consequence
Bodamer Research Lab,Boston Children's Hospital
Accession: SCV000599993.1
Submitted: (Oct 03, 2017)
Evidence details

Citations for this variant

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Title Author Journal Year Link
Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure. Rohanizadegan M Cold Spring Harbor molecular case studies 2017 PMID: 28802248

Text-mined citations for rs1556423369...

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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 Oct 30, 2020