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NM_001267550.2(TTN):c.55079C>T (p.Pro18360Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000202722.5
Variation ID:
202722
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.55079C>T (p.Pro18360Leu)

Allele ID
199208
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178602323 (GRCh38) GRCh38 UCSC
2: 179467050 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179467050G>A
NC_000002.12:g.178602323G>A
NG_011618.3:g.233480C>T
... more HGVS
Protein change
P16719L, P18360L, P15792L, P9420L, P9295L, P9487L
Other names
p.P16719L:CCA>CTA
Canonical SPDI
NC_000002.12:178602322:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (A)

Allele frequency
1000 Genomes Project 0.00080
The Genome Aggregation Database (gnomAD) 0.00051
The Genome Aggregation Database (gnomAD), exomes 0.00012
Trans-Omics for Precision Medicine (TOPMed) 0.00063
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00075
Exome Aggregation Consortium (ExAC) 0.00019
Trans-Omics for Precision Medicine (TOPMed) 0.00060
Links
ClinGen: CA310086
dbSNP: rs192788942
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Feb 7, 2018 RCV000184634.7
Uncertain significance 1 criteria provided, single submitter Jul 3, 2018 RCV000727777.3
Likely benign 1 criteria provided, single submitter Dec 4, 2020 RCV001087244.2
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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
(Dec 22, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000237311.7
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
(Jul 03, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000855169.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Feb 07, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000967325.1
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Pro15792Leu in exon 232 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.16% (39/23974) of African … (more)
Likely benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000555491.5
Submitted: (Jan 07, 2021)
Evidence details

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 rs192788942...

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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