ClinVar Genomic variation as it relates to human health
NC_012920.1(MT-ATP6):m.9035T>C
Germline
Classification
(7)
Likely pathogenic
reviewed by expert panel
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
MT-ATP6 | - | - | GRCh38 | 265 | - |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jun 1, 2018 | RCV000851177.1 | |
Conflicting interpretations of pathogenicity (2) |
|
Oct 17, 2019 | RCV000854406.4 | |
Pathogenic (1) |
|
Oct 5, 2018 | RCV001196557.2 | |
Pathogenic (1) |
|
May 4, 2022 | RCV002249546.1 | |
Likely pathogenic (1) |
|
Jun 30, 2022 | RCV002260672.1 | |
Uncertain significance (1) |
|
Apr 25, 2022 | RCV002466594.3 |
Citations for germline classification of this variant
HelpText-mined citations for rs1603222000 ...
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 Feb 04, 2024