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NM_001267550.2(TTN):c.58072C>T (p.Arg19358Cys)

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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 21, 2019)
Last evaluated:
Oct 10, 2018
Accession:
VCV000212475.2
Variation ID:
212475
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.58072C>T (p.Arg19358Cys)

Allele ID
206917
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178594422 (GRCh38) GRCh38 UCSC
2: 179459149 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179459149G>A
NC_000002.12:g.178594422G>A
NM_001267550.2:c.58072C>T MANE Select NP_001254479.2:p.Arg19358Cys missense
... more HGVS
Protein change
R16790C, R19358C, R17717C, R10418C, R10293C, R10485C
Other names
-
Canonical SPDI
NC_000002.12:178594421:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00022
The Genome Aggregation Database (gnomAD), exomes 0.00009
Exome Aggregation Consortium (ExAC) 0.00009
The Genome Aggregation Database (gnomAD) 0.00029
1000 Genomes Project 0.00060
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00016
Links
ClinGen: CA208075
dbSNP: rs371973579
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 6, 2017 RCV000534507.2
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Oct 10, 2018 RCV000194123.3
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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 - - 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 29, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000249270.1
Submitted: (Sep 15, 2015)
Evidence details
Likely benign
(Sep 13, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000729583.1
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 06, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000643423.2
Submitted: (Apr 02, 2018)
Evidence details
Likely benign
(Oct 10, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000967323.1
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The p.Arg16790Cys variant in TTN is classified as likely benign because it has b een identified in 0.08% (15/18656) of East Asian chromosomes and 0.07% … (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 rs371973579...

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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