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NM_001267550.2(TTN):c.66590G>A (p.Arg22197Gln)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jul 4, 2021)
Last evaluated:
Jan 1, 2020
Accession:
VCV000165886.9
Variation ID:
165886
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.66590G>A (p.Arg22197Gln)

Allele ID
172977
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178581678 (GRCh38) GRCh38 UCSC
2: 179446405 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179446405C>T
NC_000002.12:g.178581678C>T
NM_001267550.2:c.66590G>A MANE Select NP_001254479.2:p.Arg22197Gln missense
... more HGVS
Protein change
R19629Q, R22197Q, R20556Q, R13132Q, R13257Q, R13324Q
Other names
p.R20556Q:CGG>CAG
Canonical SPDI
NC_000002.12:178581677:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00011
The Genome Aggregation Database (gnomAD) 0.00010
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00010
Links
ClinGen: CA178589
dbSNP: rs374656017
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Jan 1, 2020 RCV000724309.2
Uncertain significance 1 criteria provided, single submitter Nov 20, 2015 RCV000242806.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 18, 2017 RCV000152249.6
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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 - - GRCh38
GRCh37
7377 17355
TTN-AS1 - - - GRCh38 - 9755

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 09, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000228409.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Nov 20, 2015)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000320463.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.R13132Q variant (also known as c.39395G>A), located in coding exon 143 of the TTN gene, results from a G to A substitution at nucleotide … (more)
Likely benign
(Dec 18, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000237442.9
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
(Apr 03, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000201063.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The Arg19629Gln variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has been identified in … (more)
Uncertain significance
(Jan 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001249863.5
Submitted: (Jul 04, 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 rs374656017...

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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 Jul 10, 2021