ClinVar Genomic variation as it relates to human health
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser)
Germline
Classification
(7)
Conflicting classifications of pathogenicity
Uncertain significance(3); Likely benign(2)
Uncertain significance(3); Likely 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 | |||
EYA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
532 | 570 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 12, 2000 | RCV000008400.3 | |
Likely benign (1) |
|
Apr 28, 2017 | RCV000309264.5 | |
Likely benign (1) |
|
Apr 28, 2017 | RCV000367199.5 | |
Benign (1) |
|
Jul 27, 2017 | RCV000496093.1 | |
Uncertain significance (1) |
|
Sep 25, 2017 | RCV000606853.4 | |
Uncertain significance (1) |
|
Dec 2, 2022 | RCV000657911.3 | |
Uncertain significance (1) |
|
May 22, 2024 | RCV004619188.1 |
Citations for germline classification of this variant
HelpText-mined citations for rs121909199 ...
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 Aug 11, 2024