ClinVar Genomic variation as it relates to human health
NM_000016.6(ACADM):c.430A>T (p.Lys144Ter)
Germline
Classification
(4)
Pathogenic/Likely pathogenic
criteria provided, multiple submitters, no conflicts
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 | |||
ACADM | - | - |
GRCh38 GRCh37 |
888 | 920 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 1, 2023 | RCV003326625.9 | |
Pathogenic (2) |
|
Mar 4, 2024 | RCV003502618.2 | |
See cases
|
Likely pathogenic (1) |
|
Dec 20, 2021 | RCV004584527.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 25, 2024