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NM_001267550.2(TTN):c.53780T>C (p.Leu17927Pro)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Sep 19, 2018)
Last evaluated:
Feb 8, 2018
Accession:
VCV000202710.5
Variation ID:
202710
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.53780T>C (p.Leu17927Pro)

Allele ID
199223
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178605515 (GRCh38) GRCh38 UCSC
2: 179470242 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.230288T>C
NC_000002.11:g.179470242A>G
NC_000002.12:g.178605515A>G
... more HGVS
Protein change
L16286P, L17927P, L15359P, L9054P, L8987P, L8862P
Other names
p.L16286P:CTT>CCT
Canonical SPDI
NC_000002.12:178605514:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00013
The Genome Aggregation Database (gnomAD), exomes 0.00015
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00017
Exome Aggregation Consortium (ExAC) 0.00018
Links
ClinGen: CA310052
dbSNP: rs369678018
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 Feb 8, 2018 RCV000184619.6
Uncertain significance 1 criteria provided, single submitter Nov 27, 2017 RCV000466917.2
Uncertain significance 1 criteria provided, single submitter Feb 8, 2017 RCV000726699.4
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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
7638 17883
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
(Feb 08, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000237293.7
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Uncertain significance
(Nov 27, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000543142.3
Submitted: (Apr 02, 2018)
Evidence details
Uncertain significance
(Feb 08, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000702192.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

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 rs369678018...

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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 Oct 16, 2021