ClinVar Genomic variation as it relates to human health
NM_001267550.2(TTN):c.46226T>C (p.Val15409Ala)
Germline
Classification
(6)
Uncertain significance
criteria provided, single submitter
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 |
11682 | 30988 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 24, 2022 | RCV003148434.1 | |
Uncertain significance (1) |
|
May 24, 2022 | RCV003148435.1 | |
Uncertain significance (1) |
|
May 24, 2022 | RCV003148436.1 | |
Uncertain significance (1) |
|
May 24, 2022 | RCV003148438.1 | |
Uncertain significance (1) |
|
May 24, 2022 | RCV003148437.1 | |
Uncertain significance (1) |
|
May 24, 2022 | RCV003148439.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 25, 2023