ClinVar Genomic variation as it relates to human health
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter)
Germline
Classification
(6)
Conflicting classifications of pathogenicity
Pathogenic(2); Likely pathogenic(2); Uncertain significance(2)
Pathogenic(2); Likely pathogenic(2); Uncertain significance(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 | |||
TTN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
11956 | 31845 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 30, 2023 | RCV000231913.6 | |
Conflicting interpretations of pathogenicity (3) |
|
Nov 15, 2021 | RCV000657941.30 | |
Likely pathogenic (1) |
|
Feb 1, 2022 | RCV002288919.3 | |
Uncertain significance (1) |
|
- | RCV000663407.3 |
Citations for germline classification of this variant
HelpText-mined citations for rs878854299 ...
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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