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NM_001267550.2(TTN):c.66703G>A (p.Val22235Ile)

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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: Mar 3, 2020)
Last evaluated:
Jan 5, 2018
Accession:
VCV000467392.2
Variation ID:
467392
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.66703G>A (p.Val22235Ile)

Allele ID
449657
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178581565 (GRCh38) GRCh38 UCSC
2: 179446292 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179446292C>T
NC_000002.12:g.178581565C>T
NM_001267550.2:c.66703G>A MANE Select NP_001254479.2:p.Val22235Ile missense
... more HGVS
Protein change
V22235I, V20594I, V19667I, V13295I, V13362I, V13170I
Other names
-
Canonical SPDI
NC_000002.12:178581564:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00017
The Genome Aggregation Database (gnomAD) 0.00010
The Genome Aggregation Database (gnomAD), exomes 0.00011
Exome Aggregation Consortium (ExAC) 0.00014
Links
ClinGen: CA1991458
dbSNP: rs751354601
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 4, 2017 RCV000550774.2
Likely benign 1 criteria provided, single submitter Jan 5, 2018 RCV000607451.1
Uncertain significance 1 criteria provided, single submitter Oct 2, 2017 RCV000727753.1
Likely benign 1 criteria provided, single submitter Nov 10, 2017 RCV001170579.1
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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
7416 17422
TTN-AS1 - - - GRCh38 - 9782

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 05, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000713918.1
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 04, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000643550.2
Submitted: (Apr 02, 2018)
Evidence details
Uncertain significance
(Oct 02, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000855131.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Nov 10, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Accession: SCV001333167.1
Submitted: (Mar 03, 2020)
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 rs751354601...

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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 Apr 08, 2021