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NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Nov 30, 2020)
Last evaluated:
Dec 11, 2017
Accession:
VCV000228179.4
Variation ID:
228179
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr)

Allele ID
228558
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178533035 (GRCh38) GRCh38 UCSC
2: 179397762 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179397762A>G
NC_000002.12:g.178533035A>G
NG_011618.3:g.302768T>C
... more HGVS
Protein change
I31959T, I34527T, I25587T, I25654T, I32886T, I25462T
Other names
-
Canonical SPDI
NC_000002.12:178533034:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00006
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00004
Exome Aggregation Consortium (ExAC) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00005
Links
ClinGen: CA1985583
dbSNP: rs370618537
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 Jun 24, 2015 RCV000219152.2
Uncertain significance 1 criteria provided, single submitter Feb 18, 2013 RCV000245827.1
Uncertain significance 1 criteria provided, single submitter Dec 11, 2017 RCV000643650.1
Uncertain significance 1 criteria provided, single submitter Jan 3, 2017 RCV000725877.1
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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
Uncertain significance
(Dec 11, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000765337.1
Submitted: (Apr 02, 2018)
Evidence details
Uncertain significance
(Jan 03, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000701183.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jun 24, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000271126.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Ile31959Thr in exon 207 of TTN: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. … (more)
Uncertain significance
(Feb 18, 2013)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000318234.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
​The p.I31959T variant (also known as c.95876T>C) is located in coding exon 306 of the TTN gene. This alteration results from a T to C … (more)

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 rs370618537...

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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