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NM_001267550.2(TTN):c.56264G>A (p.Arg18755His)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Feb 20, 2020)
Last evaluated:
Apr 6, 2018
Accession:
VCV000332831.3
Variation ID:
332831
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.56264G>A (p.Arg18755His)

Allele ID
285860
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178599637 (GRCh38) GRCh38 UCSC
2: 179464364 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.236166G>A
NC_000002.11:g.179464364C>T
NC_000002.12:g.178599637C>T
... more HGVS
Protein change
R18755H, R16187H, R9690H, R9815H, R9882H, R17114H
Other names
-
Canonical SPDI
NC_000002.12:178599636:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA1993284
dbSNP: rs772767570
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 Jan 12, 2018 RCV000261492.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000283675.2
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV000323509.2
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV000380363.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000384286.2
Likely benign 1 criteria provided, single submitter Apr 6, 2018 RCV000841748.1
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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 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
7638 17883
TTN-AS1 - - - GRCh38 - 10017

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Apr 06, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000983731.1
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)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000422732.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000422733.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Tibial muscular dystrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000422736.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Myopathy, early-onset, with fatal cardiomyopathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000422731.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Myopathy, myofibrillar, 9, with early respiratory failure
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000422734.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (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 rs772767570...

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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 Oct 08, 2021