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NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Apr 20, 2020)
Last evaluated:
Sep 27, 2017
Accession:
VCV000212484.3
Variation ID:
212484
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu)

Allele ID
206910
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178537626 (GRCh38) GRCh38 UCSC
2: 179402353 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.298177C>T
NC_000002.11:g.179402353G>A
NC_000002.12:g.178537626G>A
... more HGVS
Protein change
P30626L, P33194L, P24321L, P31553L, P24129L, P24254L
Other names
-
Canonical SPDI
NC_000002.12:178537625:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00004
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00002
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00006
Links
ClinGen: CA209318
dbSNP: rs140025425
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 Mar 9, 2015 RCV000194864.2
Uncertain significance 1 criteria provided, single submitter Sep 27, 2017 RCV000643786.1
Uncertain significance 2 criteria provided, single submitter Jul 12, 2017 RCV000727832.2

Clinical features observed in individuals with this variant

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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
7705 17950
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
(Mar 09, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000249288.1
Submitted: (Sep 15, 2015)
Evidence details
Uncertain significance
(Sep 27, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000765473.1
Submitted: (Apr 02, 2018)
Evidence details
Uncertain significance
(Jul 12, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000855262.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
not provided
(-)
no assertion provided
Method: phenotyping only
Not Provided
Allele origin: unknown
GenomeConnect, ClinGen
Accession: SCV001423359.1
Submitted: (Apr 20, 2020)
Evidence details
Comment:
Variant interpretted as Uncertain significance and reported on 07-22-2019 by Lab or GTR ID Credit Valley Hospital Department of Laboratory Medicine. GenomeConnect assertions are reported … (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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TTN - - - -

Text-mined citations for rs140025425...

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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 Nov 27, 2021