ClinVar Genomic variation as it relates to human health
NM_000709.4(BCKDHA):c.379C>T (p.Arg127Trp)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Pathogenic(1); Uncertain significance(1)
Pathogenic(1); Uncertain significance(1)
criteria provided, conflicting classifications
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 | |||
BCKDHA | - | - |
GRCh38 GRCh37 |
740 | 750 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 24, 2024 | RCV002928553.2 | |
Uncertain significance (1) |
|
May 5, 2023 | RCV003308349.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024