ClinVar Genomic variation as it relates to human health
NM_000426.4(LAMA2):c.4689G>A (p.Trp1563Ter)
Germline
Classification
(1)
Likely pathogenic
criteria provided, single submitter
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 | |||
LAMA2 | - | - |
GRCh38 GRCh37 |
4811 | 4999 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
LAMA2-related disorder
|
Likely pathogenic (1) |
|
Oct 31, 2023 | RCV004531867.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024