ClinVar Genomic variation as it relates to human health
NM_004387.4(NKX2-5):c.737A>G (p.Asn246Ser)
Germline
Classification
(4)
Uncertain significance
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 | |||
NKX2-5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
668 | 691 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 12, 2022 | RCV002289434.2 | |
Uncertain significance (1) |
|
Jan 16, 2022 | RCV003101669.3 | |
NKX2-5-related disorder
|
Uncertain significance (1) |
|
Aug 8, 2024 | RCV004754873.1 |
Uncertain significance (1) |
|
Dec 7, 2024 | RCV004982973.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jan 13, 2025