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.49263C>T (p.Tyr16421=)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(3);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
10 (Most recent: Sep 30, 2021)
Last evaluated:
Sep 10, 2020
Accession:
VCV000332848.11
Variation ID:
332848
Description:
single nucleotide variant
Help

NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=)

Allele ID
286209
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178614134 (GRCh38) GRCh38 UCSC
2: 179478861 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.221669C>T
NC_000002.11:g.179478861G>A
NC_000002.12:g.178614134G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:178614133:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD) 0.00004
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00004
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00017
Trans-Omics for Precision Medicine (TOPMed) 0.00005
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Links
ClinGen: CA1994642
dbSNP: rs376188859
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 Jan 13, 2018 RCV000302290.2
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV000300967.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000340868.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000353745.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000405891.2
Likely benign 1 criteria provided, single submitter Sep 10, 2020 RCV001079002.2
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Mar 20, 2020 RCV000734070.7
Benign 1 no assertion criteria provided - RCV001723920.1
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
7705 17950
TTN-AS1 - - - GRCh38 - 10017

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000423031.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Tibial muscular dystrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000423033.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000423036.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Myopathy, early-onset, with fatal cardiomyopathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000423032.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Myopathy, myofibrillar, 9, with early respiratory failure
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000423035.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jun 29, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000862181.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Sep 10, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000765352.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Mar 20, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001802774.1
Submitted: (Aug 20, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001744762.3
Submitted: (Sep 02, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001953818.1
Submitted: (Sep 30, 2021)
Evidence details

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
Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TTN - - - -

Text-mined citations for rs376188859...

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 Nov 27, 2021