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NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(5)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: May 26, 2021)
Last evaluated:
Jun 16, 2020
Accession:
VCV000238827.5
Variation ID:
238827
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)

Allele ID
238443
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178581939 (GRCh38) GRCh38 UCSC
2: 179446666 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179446666C>T
NC_000002.12:g.178581939C>T
NG_011618.3:g.253864G>A
... more HGVS
Protein change
A22144T, A20503T, A19576T, A13079T, A13271T, A13204T
Other names
-
Canonical SPDI
NC_000002.12:178581938:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00017
Trans-Omics for Precision Medicine (TOPMed) 0.00026
The Genome Aggregation Database (gnomAD) 0.00025
The Genome Aggregation Database (gnomAD), exomes 0.00027
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00025
Links
ClinGen: CA1991530
dbSNP: rs183276016
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 14, 2017 RCV000226664.4
Uncertain significance 1 criteria provided, single submitter Jan 22, 2018 RCV000304565.4
Likely benign 1 criteria provided, single submitter Jun 16, 2020 RCV000620279.2
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000765557.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Jun 17, 2019 RCV000725486.3
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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
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
Uncertain significance
(Nov 14, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000286787.4
Submitted: (Apr 02, 2018)
Evidence details
Uncertain significance
(Aug 13, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000337254.3
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Tibial muscular dystrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Myopathy, early-onset, with fatal cardiomyopathy
Familial hypertrophic cardiomyopathy 9
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000896872.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Jan 22, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000710951.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Variant classified as Uncertain Significance - Favor Benign. The p.Ala19576Thr v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but … (more)
Likely benign
(Apr 25, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000980925.1
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)
Likely benign
(Jun 16, 2020)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000736048.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Uncertain significance
(Jun 17, 2019)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001713226.1
Submitted: (May 26, 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
Correction: Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation. Sanchez O PloS one 2017 PMID: 28166282
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TTN - - - -

Text-mined citations for rs183276016...

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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 06, 2021