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NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 26, 2020
Accession:
VCV000212474.5
Variation ID:
212474
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile)

Allele ID
206918
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178598544 (GRCh38) GRCh38 UCSC
2: 179463271 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179463271C>T
NC_000002.12:g.178598544C>T
NM_001267550.2:c.57073G>A MANE Select NP_001254479.2:p.Val19025Ile missense
... more HGVS
Protein change
V16457I, V19025I, V17384I, V9960I, V10085I, V10152I
Other names
-
Canonical SPDI
NC_000002.12:178598543:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00018
Trans-Omics for Precision Medicine (TOPMed) 0.00011
Exome Aggregation Consortium (ExAC) 0.00017
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00006
Links
dbSNP: rs181957743
ClinGen: CA248822
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 26, 2020 RCV000464720.5
Conflicting interpretations of pathogenicity 4 criteria provided, conflicting interpretations May 12, 2017 RCV000192710.2
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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
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
(Apr 17, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000249269.1
Submitted: (Sep 15, 2015)
Evidence details
Uncertain significance
(Jul 01, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
Accession: SCV000257867.2
Submitted: (Aug 10, 2015)
Evidence details
Likely benign
(May 12, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000719435.1
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)
Likely benign
(Jun 26, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000555361.5
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jan 20, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000711410.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Variant classified as Uncertain Significance - Favor Benign. The p.Val16457Ile v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs181957743...

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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