VCV000440835.1 - ClinVar

NC_012920.1(MT-CO2):m.7965T>C

Germline

Classification

no assertion criteria provided. Learn more about how ClinVar calculates review status.

Uncertain significance

This classification is based on the single submission received

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.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NC_012920.1(MT-CO2):m.7965T>C

Variation ID: 440835 Accession: VCV000440835.1

Type and length

single nucleotide variant, 1 bp

Location

MT: 7965 (GRCh38) [ NCBI UCSC ] MT: 7965 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	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	Oct 8, 2017	Oct 8, 2017	Mar 29, 2016

HGVS

Nucleotide	Protein	Molecular consequence
NC_012920.1:m.7965T>C

Protein change

Other names

MSCV_0000006

Canonical SPDI

NC_012920.1:7964:T:C

Global minor allele frequency (GMAF) Help The 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.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA414794444 MSeqDR: the Mitochondrial Disease Sequence Data Resource Consortium: MSCV_0000006 dbSNP: rs1556423369 VarSome

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
Gene	OMIM	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.
MT-CO2		-	-	GRCh38	130	139

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.
Mitochondrial complex IV deficiency, nuclear type 1	Uncertain significance (1)	no assertion criteria provided	Mar 29, 2016	RCV000509036.1

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.	Expand all rows Collapse all rows 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.
Uncertain significance (Mar 29, 2016) C Contributing to aggregate classification	no assertion criteria provided	Cytochrome c Oxidase Deficiency (Mitochondrial inheritance)	Bodamer Research Lab, Boston Children's Hospital Accession: SCV000599993.1 First in ClinVar: Oct 08, 2017 Last updated: Oct 08, 2017	Observation: 1 Collection method: clinical testing Allele origin: maternal Affected status: unknown more Observation 1 Collection method: clinical testing Allele origin: maternal Affected status: unknown Clinical Features: Liver failure (present) , Ascites (present) , Hydrops fetalis (present) , Anemia (present) , Hepatosplenomegaly (present) Age: 0-9 years Testing laboratory: GeneDx Date variant was reported to submitter: 2016-03-29 Testing laboratory interpretation: Uncertain significance

Citations for germline classification of this variant

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 ...

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 Jan 13, 2025