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NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(5)

Review status:
criteria provided, conflicting interpretations
Submissions:
8 (Most recent: Aug 5, 2021)
Last evaluated:
Mar 31, 2020
Accession:
VCV000332901.4
Variation ID:
332901
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr)

Allele ID
283389
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178706557 (GRCh38) GRCh38 UCSC
2: 179571284 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179571284C>T
NC_000002.12:g.178706557C>T
NG_011618.3:g.129246G>A
... more HGVS
Protein change
A9773T, A8529T, A9456T
Other names
-
Canonical SPDI
NC_000002.12:178706556:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00009
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00017
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00007
The Genome Aggregation Database (gnomAD) 0.00009
Exome Aggregation Consortium (ExAC) 0.00006
Links
ClinGen: CA1999409
dbSNP: rs371163094
VarSome
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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 RCV000291685.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000304696.2
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV000344234.2
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV000390621.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000396317.2
Uncertain significance 1 criteria provided, single submitter Nov 30, 2016 RCV000470820.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Mar 31, 2020 RCV000727772.3
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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

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 30, 2016)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000542281.2
Submitted: (Mar 14, 2017)
Evidence details
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: SCV000423844.3
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: SCV000423842.3
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
Tibial muscular dystrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000423843.3
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
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000423847.3
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: SCV000423845.3
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
(Aug 16, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000855162.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Mar 31, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001772993.1
Submitted: (Aug 05, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 29263846)

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 rs371163094...

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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