ClinVar Genomic variation as it relates to human health
NM_000330.4(RS1):c.326+1159C>G
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Likely benign
for
CDKL5 disorder
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 | |||
CDKL5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1260 | 2028 | |
RS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
124 | 877 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 31, 2018 | RCV000764871.10 | |
Likely benign (1) |
|
Oct 9, 2023 | RCV001202850.16 | |
Likely benign (1) |
|
Apr 2, 2018 | RCV001704065.9 | |
Likely benign (1) |
|
Apr 14, 2023 | RCV003235064.9 | |
CDKL5-related disorder
|
Likely benign (1) |
|
Sep 25, 2023 | RCV004544331.2 |
Citations for germline classification of this variant
HelpText-mined citations for rs587783160 ...
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 Nov 25, 2024