ClinVar Genomic variation as it relates to human health
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr)
Germline
Classification
(6)
Conflicting classifications of pathogenicity
Uncertain significance(1); Benign(2)
Uncertain significance(1); Benign(2)
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 | |||
EPG5 | - | - |
GRCh38 GRCh37 |
2267 | 2400 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (2) |
|
Jan 29, 2024 | RCV000548885.16 | |
Benign (3) |
|
Apr 1, 2024 | RCV001706669.9 | |
EPG5-related disorder
|
Likely benign (1) |
|
Sep 20, 2022 | RCV003935457.2 |
Citations for germline classification of this variant
HelpText-mined citations for rs201067154 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Oct 20, 2024