ClinVar Genomic variation as it relates to human health
GLA, 1-BP DEL, NT716
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 1, 1993 | RCV000011497.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024
NCBI staff could not identify a deletion allele reported in the paper by Davies et al., 1993 (PubMed 8395937). The paper did cite `A one base insertion of an adenine nucleotide between nucleotides 716 and 717 of the normal cDNA', which likely corresponds to NM_000169.2:c.719dup.