ClinVar Genomic variation as it relates to human health
NM_000202.8(IDS):c.1454T>C (p.Ile485Thr)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Pathogenic(1); Benign(1)
Pathogenic(1); 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 | |||
IDS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
660 | 1573 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (2) |
|
Jun 7, 2024 | RCV003985699.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 04, 2024