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NM_001267550.2(TTN):c.92454C>T (p.Pro30818=)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
5 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 13, 2018
Accession:
VCV000332728.3
Variation ID:
332728
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.92454C>T (p.Pro30818=)

Allele ID
285769
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178549172 (GRCh38) GRCh38 UCSC
2: 179413899 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.286631C>T
NC_000002.11:g.179413899G>A
NC_000002.12:g.178549172G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:178549171:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
ClinGen: CA10613032
dbSNP: rs771773845
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 13, 2018 RCV000305866.3
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000307101.3
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000345585.3
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000395449.3
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000399321.3
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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
7789 18138
TTN-AS1 - - - GRCh38 - 10119

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV000420849.3
Submitted: (Feb 20, 2020)
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 13, 2018)
criteria provided, single submitter
Method: clinical testing
Tibial muscular dystrophy
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV000420848.3
Submitted: (Feb 20, 2020)
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 13, 2018)
criteria provided, single submitter
Method: clinical testing
Myopathy, myofibrillar, 9, with early respiratory failure
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV000420847.3
Submitted: (Feb 20, 2020)
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 13, 2018)
criteria provided, single submitter
Method: clinical testing
Limb-girdle muscular dystrophy, type 2J
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV000420851.3
Submitted: (Feb 20, 2020)
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 13, 2018)
criteria provided, single submitter
Method: clinical testing
Myopathy, early-onset, with fatal cardiomyopathy
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV000420850.3
Submitted: (Feb 20, 2020)
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 rs771773845...

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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 Jan 08, 2022