ClinVar Genomic variation as it relates to human health
NM_004208.4(AIFM1):c.1208A>T (p.Asn403Ile)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Likely pathogenic(1); Uncertain significance(1)
Likely 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 | |||
AIFM1 | - | - |
GRCh38 GRCh37 |
7 | 662 | |
RAB33A | - | - |
GRCh38 GRCh37 |
9 | 662 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jul 1, 2023 | RCV003239047.1 | |
AIFM1-related disorder
|
Uncertain significance (1) |
|
Sep 6, 2023 | RCV003396972.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024