ClinVar Genomic variation as it relates to human health
NM_004937.3(CTNS):c.517T>C (p.Tyr173His)
Germline
Classification
(2)
Likely pathogenic
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 | |||
CTNS | - | - |
GRCh38 GRCh37 |
510 | 921 | |
CTNS-AS1 | - | - | - | GRCh38 | - | 322 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 21, 2023 | RCV003783688.1 | |
Likely pathogenic (1) |
|
Mar 14, 2024 | RCV004527465.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024