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NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(4);Likely benign(2);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
10 (Most recent: Sep 23, 2021)
Last evaluated:
Nov 25, 2020
Accession:
VCV000180028.8
Variation ID:
180028
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)

Allele ID
172823
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178576001 (GRCh38) GRCh38 UCSC
2: 179440728 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001256850.1:c.65208A>G NP_001243779.1:p.Thr21736= synonymous
NM_133378.4:c.62427A>G NP_596869.4:p.Thr20809= synonymous
LRG_391:g.259802A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:178576000:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00015
Trans-Omics for Precision Medicine (TOPMed) 0.00013
Trans-Omics for Precision Medicine (TOPMed) 0.00008
The Genome Aggregation Database (gnomAD) 0.00010
The Genome Aggregation Database (gnomAD), exomes 0.00015
1000 Genomes Project 0.00060
Links
ClinGen: CA185670
dbSNP: rs369503828
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Sep 17, 2014 RCV000156831.3
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000282721.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000262898.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000342673.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000318111.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000371793.2
Benign 1 criteria provided, single submitter Nov 10, 2020 RCV001087657.2
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Nov 25, 2020 RCV000714084.5
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 17, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000206552.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Thr20809Thr in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue … (more)
Benign
(Aug 14, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000844751.1
Submitted: (Aug 31, 2018)
Evidence details
Uncertain significance
(May 18, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000861227.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
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: SCV000422024.3
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: SCV000422027.3
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: SCV000422028.3
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
Myopathy, myofibrillar, 9, with early respiratory failure
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000422025.3
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: SCV000422023.3
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
(Nov 10, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000555205.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Nov 25, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000534865.5
Submitted: (Sep 23, 2021)
Evidence details

Functional evidence

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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

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

Text-mined citations for rs369503828...

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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