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NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Nov 30, 2020)
Last evaluated:
Aug 17, 2020
Accession:
VCV000404875.5
Variation ID:
404875
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu)

Allele ID
391668
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178564605 (GRCh38) GRCh38 UCSC
2: 179429332 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179429332C>A
NC_000002.12:g.178564605C>A
NG_011618.3:g.271198G>T
... more HGVS
Protein change
R27176L, R25535L, R18111L, R18236L, R24608L, R18303L
Other names
-
Canonical SPDI
NC_000002.12:178564604:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00016
Trans-Omics for Precision Medicine (TOPMed) 0.00011
Links
ClinGen: CA1989195
dbSNP: rs199726308
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 16, 2017 RCV000467896.3
Likely benign 1 criteria provided, single submitter Jul 14, 2020 RCV000620057.2
Uncertain significance 1 criteria provided, single submitter Jun 17, 2016 RCV000768914.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Aug 17, 2020 RCV000605477.2
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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
7638 17883
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 01, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000714532.1
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
(Aug 16, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000542670.3
Submitted: (Apr 02, 2018)
Evidence details
Likely benign
(Jul 14, 2020)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000735822.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
In silico models in agreement (benign);Insufficient evidence;Subpopulation frequency in support of benign classification
Uncertain significance
(Jun 17, 2016)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Study: Canadian Open Genetics Repository
Accession: SCV000900287.1
Submitted: (Apr 30, 2018)
Evidence details
Uncertain significance
(Aug 17, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001432111.1
Submitted: (Sep 09, 2020)
Evidence details
Comment:
Variant summary: TTN c.73823G>T (p.Arg24608Leu) results in a non-conservative amino acid change located in the A-band of the encoded protein sequence. Two of four in-silico … (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
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Bastarache L Science (New York, N.Y.) 2018 PMID: 29590070

Text-mined citations for rs199726308...

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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 Oct 08, 2021