ClinVar Genomic variation as it relates to human health
NM_001267550.2(TTN):c.53280A>G (p.Glu17760=)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely 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 | |||
TTN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
11726 | 31215 | |
LOC126806425 | - | - | - | GRCh38 | - | 254 |
TTN-AS1 | - | - | - | GRCh38 | - | 17887 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Feb 3, 2023 | RCV003797110.1 | |
Uncertain significance (1) |
|
Dec 28, 2023 | RCV004366617.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024