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NM_001267550.2(TTN):c.52004G>A (p.Arg17335His)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Sep 25, 2021)
Last evaluated:
Oct 18, 2020
Accession:
VCV000195710.6
Variation ID:
195710
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.52004G>A (p.Arg17335His)

Allele ID
192871
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178609306 (GRCh38) GRCh38 UCSC
2: 179474033 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001256850.1:c.47081G>A NP_001243779.1:p.Arg15694His missense
NM_133378.4:c.44300G>A NP_596869.4:p.Arg14767His missense
LRG_391:g.226497G>A
... more HGVS
Protein change
R17335H, R15694H, R14767H, R8270H, R8395H, R8462H
Other names
p.R15694H:CGC>CAC
Canonical SPDI
NC_000002.12:178609305:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00017
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00025
The Genome Aggregation Database (gnomAD) 0.00026
The Genome Aggregation Database (gnomAD), exomes 0.00012
Links
ClinGen: CA302842
dbSNP: rs367603302
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 Apr 23, 2015 RCV000213905.8
Likely benign 1 criteria provided, single submitter Oct 18, 2020 RCV001086306.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jun 17, 2019 RCV000725162.4
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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
Uncertain significance
(Sep 14, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000334579.3
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Apr 23, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000272677.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The p.Arg14767His variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/9444 of African chromosomes b y … (more)
Likely benign
(Jun 17, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000237275.8
Submitted: (Sep 25, 2021)
Evidence details
Likely benign
(Oct 18, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000764950.4
Submitted: (Jan 07, 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 rs367603302...

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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 Sep 26, 2021