ClinVar Genomic variation as it relates to human health
NM_001267550.2(TTN):c.52694_52695del (p.His17565fs)
Germline
Classification
(6)
Likely pathogenic
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 | |
LOC126806425 | - | - | - | GRCh38 | - | 252 |
TTN-AS1 | - | - | - | GRCh38 | - | 17716 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Sep 12, 2022 | RCV003147977.1 | |
Likely pathogenic (1) |
|
Sep 12, 2022 | RCV003147979.1 | |
Likely pathogenic (1) |
|
Sep 12, 2022 | RCV003147978.1 | |
Likely pathogenic (1) |
|
Sep 12, 2022 | RCV003147974.1 | |
Likely pathogenic (1) |
|
Sep 12, 2022 | RCV003147975.1 | |
Likely pathogenic (1) |
|
Sep 12, 2022 | RCV003147976.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 25, 2023