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NM_001267550.2(TTN):c.52006G>A (p.Val17336Ile)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Aug 3, 2021)
Last evaluated:
Jan 2, 2019
Accession:
VCV000165999.4
Variation ID:
165999
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.52006G>A (p.Val17336Ile)

Allele ID
173131
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178609304 (GRCh38) GRCh38 UCSC
2: 179474031 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.226499G>A
NM_133378.4:c.44302G>A NP_596869.4:p.Val14768Ile missense
NC_000002.11:g.179474031C>T
... more HGVS
Protein change
V14768I, V17336I, V8463I, V8271I, V8396I, V15695I
Other names
-
Canonical SPDI
NC_000002.12:178609303:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00005
Trans-Omics for Precision Medicine (TOPMed) 0.00007
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00005
Links
ClinGen: CA178794
dbSNP: rs567781604
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 Jul 17, 2013 RCV000152333.3
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jan 2, 2019 RCV000724961.3
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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
7708 17954
TTN-AS1 - - - GRCh38 - 10018

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 27, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000332761.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jul 17, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000201228.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Val14768Ile in exon 222 of TTN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species. Two … (more)
Likely benign
(Jan 02, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001766723.1
Submitted: (Aug 03, 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 rs567781604...

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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