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NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(3);Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
8 (Most recent: Jul 4, 2021)
Last evaluated:
Nov 23, 2020
Accession:
VCV000179010.15
Variation ID:
179010
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val)

Allele ID
173081
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178550195 (GRCh38) GRCh38 UCSC
2: 179414922 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001256850.1:c.86720C>T NP_001243779.1:p.Ala28907Val missense
NM_003319.4:c.64448C>T NP_003310.4:p.Ala21483Val missense
NM_133378.4:c.83939C>T NP_596869.4:p.Ala27980Val missense
... more HGVS
Protein change
A27980V, A30548V, A28907V, A21483V, A21608V, A21675V
Other names
p.A28907V:GCT>GTT
Canonical SPDI
NC_000002.12:178550194:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00088
Exome Aggregation Consortium (ExAC) 0.00095
1000 Genomes Project 0.00180
Links
dbSNP: rs553668520
ClinGen: CA183496
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Aug 1, 2016 RCV000184979.5
Likely benign 1 criteria provided, single submitter Sep 16, 2015 RCV000249201.1
Uncertain significance 1 criteria provided, single submitter Oct 16, 2015 RCV000769879.1
Benign 1 criteria provided, single submitter Nov 23, 2020 RCV001080345.2
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Feb 3, 2017 RCV000155789.3
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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
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
Uncertain significance
(Oct 16, 2015)
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: SCV000901305.1
Submitted: (Apr 30, 2018)
Evidence details
Benign
(Nov 23, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000555303.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Feb 03, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000616174.1
Submitted: (Aug 17, 2017)
Evidence details
Benign
(Sep 01, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000334915.3
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jun 07, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000205500.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The Ala27980Val in TTN has not been reported in individuals with cardiomyopathy or in large population studies. Computational analyses (biochemical amino acid p roperties, conservation, … (more)
Likely benign
(Sep 16, 2015)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000320184.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Subpopulation frequency in support of benign classification
Uncertain significance
(Aug 01, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001152666.7
Submitted: (Jul 04, 2021)
Evidence details
not provided
(Mar 20, 2014)
no assertion provided
Method: clinical testing
not provided
Allele origin: germline
GeneDx
Accession: SCV000237755.2
Submitted: (Jun 04, 2015)
Evidence details
Comment:
Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency 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 rs553668520...

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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 07, 2021