ClinVar Genomic variation as it relates to human health
NM_001655.5(ARCN1):c.1256C>T (p.Ala419Val)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely 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 | |||
ARCN1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
215 | 255 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
- | RCV001255814.2 | |
Uncertain significance (1) |
|
Jul 9, 2021 | RCV002568752.2 | |
Likely benign (1) |
|
Jul 4, 2023 | RCV002570600.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024