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NM_001267550.2(TTN):c.4160T>C (p.Leu1387Pro)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Sep 23, 2021)
Last evaluated:
Dec 22, 2020
Accession:
VCV000515025.4
Variation ID:
515025
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.4160T>C (p.Leu1387Pro)

Allele ID
499349
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178778922 (GRCh38) GRCh38 UCSC
2: 179643649 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001256850.1:c.4160T>C NP_001243779.1:p.Leu1387Pro missense
NC_000002.11:g.179643649A>G
NC_000002.12:g.178778922A>G
... more HGVS
Protein change
L1387P, L1341P
Other names
-
Canonical SPDI
NC_000002.12:178778921:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00017
The Genome Aggregation Database (gnomAD) 0.00016
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD), exomes 0.00003
Exome Aggregation Consortium (ExAC) 0.00005
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
Links
ClinGen: CA2005395
dbSNP: rs115303497
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 Aug 31, 2020 RCV000610308.3
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 22, 2020 RCV000714029.3
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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
7529 17630
LOC101927055 - - - GRCh38 - 219

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 10, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000844692.1
Submitted: (Aug 31, 2018)
Evidence details
Likely benign
(Dec 22, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000726990.2
Submitted: (Sep 23, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 31983221)
Uncertain significance
(Aug 31, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001431981.1
Submitted: (Sep 09, 2020)
Evidence details
Comment:
Variant summary: TTN c.4160T>C (p.Leu1387Pro) results in a non-conservative amino acid change located in the near Z-disk domain of the encoded protein sequence. Three of … (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 rs115303497...

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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 Sep 29, 2021