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.26468C>T (p.Thr8823Met)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Sep 23, 2021)
Last evaluated:
Jul 31, 2020
Accession:
VCV000046781.5
Variation ID:
46781
Description:
single nucleotide variant
Help

NM_001267550.2(TTN):c.26468C>T (p.Thr8823Met)

Allele ID
55946
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178714306 (GRCh38) GRCh38 UCSC
2: 179579033 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.121497C>T
NM_001256850.1:c.25517C>T NP_001243779.1:p.Thr8506Met missense
NM_133378.4:c.22736C>T NP_596869.4:p.Thr7579Met missense
... more HGVS
Protein change
T8823M, T7579M, T8506M
Other names
-
Canonical SPDI
NC_000002.12:178714305:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00003
1000 Genomes Project 0.00020
Links
ClinGen: CA139175
dbSNP: rs368151971
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Apr 3, 2015 RCV000040051.5
Uncertain significance 1 criteria provided, single submitter Jan 13, 2013 RCV000249193.1
Uncertain significance 1 criteria provided, single submitter Jan 2, 2018 RCV000643107.1
Likely benign 1 criteria provided, single submitter Jul 31, 2020 RCV001697103.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TTN Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
7638 17883

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jul 31, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000722265.2
Submitted: (Sep 23, 2021)
Evidence details
Uncertain significance
(Jan 02, 2018)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000764794.1
Submitted: (Apr 02, 2018)
Evidence details
Likely benign
(Apr 03, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000063742.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
proposed classification - variant undergoing re-assessment, contact laboratory
Uncertain significance
(Jan 13, 2013)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000317957.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
There is insufficient or conflicting evidence for classification of this alteration.

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 rs368151971...

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 Sep 25, 2021