ClinVar Genomic variation as it relates to human health
NM_000169.3(GLA):c.227T>C (p.Met76Thr)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Likely pathogenic(1); Uncertain significance(1)
Likely pathogenic(1); Uncertain significance(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 | |||
GLA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6 | 1235 | |
RPL36A-HNRNPH2 | - | - | - |
GRCh38 GRCh37 |
- | 1263 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 27, 2022 | RCV003066355.3 | |
Likely pathogenic (1) |
|
May 31, 2023 | RCV003491210.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024