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NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys)

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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: Apr 12, 2019)
Last evaluated:
Mar 15, 2018
Accession:
VCV000165907.2
Variation ID:
165907
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys)

Allele ID
172989
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178587944 (GRCh38) GRCh38 UCSC
2: 179452671 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179452671G>A
NC_000002.12:g.178587944G>A
NM_001267550.2:c.63463C>T MANE Select NP_001254479.2:p.Arg21155Cys missense
... more HGVS
Protein change
R18587C, R21155C, R12215C, R19514C, R12090C, R12282C
Other names
-
Canonical SPDI
NC_000002.12:178587943:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00008
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA178623
dbSNP: rs374727686
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 Nov 28, 2014 RCV000152260.3
Uncertain significance 1 criteria provided, single submitter May 3, 2017 RCV000460153.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Mar 15, 2018 RCV000724176.2
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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
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
(May 03, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000542580.2
Submitted: (Oct 05, 2017)
Evidence details
Uncertain significance
(Jun 05, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000228291.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Nov 28, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000201094.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The p.Arg18587Cys variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/3770 of African American chro mosomes … (more)
Likely benign
(Mar 15, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000981778.1
Submitted: (Apr 12, 2019)
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)

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 rs374727686...

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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 07, 2021