ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Uncertain significance
- Review status:
- no assertion criteria provided
- Submissions:
- 1
- First in ClinVar:
- Oct 8, 2017
- Most recent Submission:
- Oct 8, 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
consequenceNC_012920.1:m.7965T>C - Protein change
- -
- 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
- ClinGen: CA414794444
- MSeqDR: the Mitochondrial Disease Sequence Data Resource Consortium: MSCV_0000006
- dbSNP: rs1556423369
- VarSome
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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 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Uncertain significance
(Mar 29, 2016)
|
no assertion criteria provided
Method: clinical testing
|
(Mitochondrial inheritance)
Affected status: unknown
Allele origin:
maternal
|
Bodamer Research Lab, Boston Children's Hospital
Accession: SCV000599993.1
First in ClinVar: Oct 08, 2017 Last updated: Oct 08, 2017 |
Clinical Features:
Liver failure (present) , Ascites (present) , Hydrops fetalis (present) , Anemia (present) , Hepatosplenomegaly (present)
Age: 0-9 years
Sex: male
Testing laboratory: GeneDx
Date variant was reported to submitter: 2016-03-29
Testing laboratory interpretation: Uncertain significance
|
Functional evidence
Help| Functional consequence | Method | Result | Submitter | More information |
|---|---|---|---|---|
|
unknown functional consequence
|
Bodamer Research Lab, Boston Children's Hospital
Accession: SCV000599993.1
First in ClinVar: Oct 08, 2017
Last updated: Oct 08, 2017
|
|
Citations for this variant
Help| 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...
HelpThese 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 Jul 29, 2023