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NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu)

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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: Sep 23, 2021)
Last evaluated:
Mar 2, 2021
Accession:
VCV000047531.6
Variation ID:
47531
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu)

Allele ID
56695
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178548259 (GRCh38) GRCh38 UCSC
2: 179412986 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.287544G>C
NM_001256850.1:c.88444G>C NP_001243779.1:p.Val29482Leu missense
NM_133378.4:c.85663G>C NP_596869.4:p.Val28555Leu missense
... more HGVS
Protein change
V31123L, V28555L, V22250L, V29482L, V22058L, V22183L
Other names
-
Canonical SPDI
NC_000002.12:178548258:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00024
1000 Genomes Project 0.00040
Exome Aggregation Consortium (ExAC) 0.00012
Trans-Omics for Precision Medicine (TOPMed) 0.00037
The Genome Aggregation Database (gnomAD) 0.00019
Links
ClinGen: CA141278
dbSNP: rs202096200
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 Dec 6, 2012 RCV000040800.2
Likely benign 1 criteria provided, single submitter Dec 2, 2020 RCV001087420.2
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Mar 2, 2021 RCV000172195.5
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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 02, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000970831.2
Submitted: (Sep 23, 2021)
Evidence details
Uncertain significance
(Jun 24, 2013)
criteria provided, single submitter
Method: research
Not provided
Allele origin: unknown
Biesecker Lab/Clinical Genomics Section,National Institutes of Health
Study: ClinSeq
Accession: SCV000051314.1
Submitted: (Mar 10, 2015)
Comments (2):
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:23861362 for … (more)
Medical sequencing
Evidence details
Uncertain significance
(Sep 15, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000855084.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000765014.4
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Dec 06, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000064491.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The Val28555Leu variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has been identified in … (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 rs202096200...

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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 24, 2021