ClinVar Genomic variation as it relates to human health
NM_000033.4(ABCD1):c.1780G>A (p.Gly594Ser)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Pathogenic(1); Likely pathogenic(1); Benign(1)
Pathogenic(1); Likely pathogenic(1); Benign(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 | |||
ABCD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1495 | 1734 | |
PLXNB3-AS1 | - | - | - | GRCh38 | - | 118 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic/Likely pathogenic (2) |
|
Dec 13, 2023 | RCV003021641.3 | |
Benign (1) |
|
May 12, 2023 | RCV003483904.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024