Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001267550.2(TTN):c.90968G>C (p.Arg30323Thr)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: May 19, 2021)
Last evaluated:
May 10, 2021
Accession:
VCV000202972.2
Variation ID:
202972
Description:
single nucleotide variant
Help

NM_001267550.2(TTN):c.90968G>C (p.Arg30323Thr)

Allele ID
198857
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178551932 (GRCh38) GRCh38 UCSC
2: 179416659 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179416659C>G
NC_000002.12:g.178551932C>G
NM_001267550.2:c.90968G>C MANE Select NP_001254479.2:p.Arg30323Thr missense
... more HGVS
Protein change
R28682T, R30323T, R21383T, R21258T, R27755T, R21450T
Other names
p.R28682T:AGG>ACG
Canonical SPDI
NC_000002.12:178551931:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.03594 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs11887722
ClinGen: CA310852
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Feb 13, 2017 RCV000559240.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations May 10, 2021 RCV000184963.5
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TTN - - GRCh38
GRCh37
7296 17194
TTN-AS1 - - - GRCh38 - 9677

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 30, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000237738.6
Submitted: (Feb 15, 2017)
Evidence details
Comment:
Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in … (more)
Uncertain significance
(Feb 13, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000643880.1
Submitted: (Oct 05, 2017)
Evidence details
Likely benign
(May 10, 2021)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001623268.1
Submitted: (May 19, 2021)
Evidence details
Comment:
Variant summary: TTN c.83264G>C (p.Arg27755Thr) results in a non-conservative amino acid change located in the A-band of the encoded protein sequence. Three of five in-silico … (more)

Functional evidence

Help
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

Help
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 rs11887722...

Help
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 Jun 14, 2021