Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Mar 21, 2019)
Last evaluated:
Nov 10, 2017
Accession:
VCV000203295.2
Variation ID:
203295
Description:
single nucleotide variant
Help

NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr)

Allele ID
199530
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178723927 (GRCh38) GRCh38 UCSC
2: 179588654 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.12:g.178723927A>G
NC_000002.11:g.179588654A>G
NM_001267550.2:c.21332T>C MANE Select NP_001254479.2:p.Met7111Thr missense
... more HGVS
Protein change
M6794T, M7111T, M5867T
Other names
p.M6794T:ATG>ACG
Canonical SPDI
NC_000002.12:178723926:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA311951
dbSNP: rs374408615
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Nov 10, 2017 RCV000643152.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 12, 2015 RCV000220902.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TTN - - GRCh38
GRCh37
7416 17422

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 09, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000238293.6
Submitted: (Jul 13, 2017)
Evidence details
Comment:
Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in … (more)
Uncertain significance
(Nov 10, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000764839.1
Submitted: (Apr 02, 2018)
Evidence details
Likely benign
(Nov 12, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000270986.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Met5867Thr in exon 70 of TTN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including … (more)

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs374408615...

Help
These 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 Jul 07, 2021