ClinVar Genomic variation as it relates to human health
NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)
Germline
Classification
(3)
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 | |||
PDHA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
561 | 774 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 24, 2022 | RCV000196688.3 | |
Pathogenic (1) |
|
Oct 22, 2015 | RCV000760291.1 | |
Pathogenic (1) |
|
Apr 2, 2021 | RCV001753598.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 05, 2023