Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001267550.2(TTN):c.77302C>A (p.Leu25768Ile)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Aug 3, 2021)
Last evaluated:
Oct 23, 2018
Accession:
VCV000518969.6
Variation ID:
518969
Description:
single nucleotide variant
Help

NM_001267550.2(TTN):c.77302C>A (p.Leu25768Ile)

Allele ID
509307
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178568830 (GRCh38) GRCh38 UCSC
2: 179433557 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179433557G>T
NC_000002.12:g.178568830G>T
NG_011618.3:g.266973C>A
... more HGVS
Protein change
L16703I, L25768I, L16895I, L23200I, L16828I, L24127I
Other names
-
Canonical SPDI
NC_000002.12:178568829:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00000
Exome Aggregation Consortium (ExAC) 0.00017
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD) 0.00000
The Genome Aggregation Database (gnomAD), exomes 0.00012
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA1989796
dbSNP: rs541266544
VarSome
Help

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 Oct 23, 2018 RCV000871033.3
Uncertain significance 1 criteria provided, single submitter Jan 5, 2017 RCV000620531.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Oct 23, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001012628.1
Submitted: (Mar 14, 2019)
Evidence details
Uncertain significance
(Jan 05, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000736744.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.L16703I variant (also known as c.50107C>A), located in coding exon 153 of the TTN gene, results from a C to A substitution at nucleotide … (more)
Likely benign
(Aug 29, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001768522.1
Submitted: (Aug 03, 2021)
Evidence details

Functional evidence

Help
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

Help
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 rs541266544...

Help
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