ClinVar Genomic variation as it relates to human health
NM_003680.4(YARS1):c.1255C>T (p.Leu419=)
Germline
Classification
(2)
Uncertain significance
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 | |||
YARS1 | - | - |
GRCh38 GRCh37 |
432 | 567 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 17, 2023 | RCV003616728.2 | |
YARS1-related disorder
|
Uncertain significance (1) |
|
Mar 13, 2024 | RCV004758284.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024