ClinVar Genomic variation as it relates to human health
NM_001321075.3(DLG4):c.1364G>A (p.Arg455His)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Benign(1)
Uncertain significance(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 | |||
DLG4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
155 | 324 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Dec 2, 2021 | RCV003872808.2 | |
Uncertain significance (1) |
|
Nov 7, 2023 | RCV004369572.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024