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NM_001267550.2(TTN):c.32554+5_32554+6del

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Oct 1, 2021)
Last evaluated:
Feb 1, 2021
Accession:
VCV000467017.10
Variation ID:
467017
Description:
2bp microsatellite
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NM_001267550.2(TTN):c.32554+5_32554+6del

Allele ID
450002
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
2q31.2
Genomic location
2: 178684900-178684901 (GRCh38) GRCh38 UCSC
2: 179549627-179549628 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NG_011618.3:g.150900_150901AT[1]
NM_003319.4:c.13283-42584_13283-42583del
NM_133437.4:c.13859-42584_13859-42583del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:178684899:ATATA:ATA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA1998620
dbSNP: rs771419718
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 Jan 9, 2018 RCV000535458.2
Uncertain significance 1 criteria provided, single submitter Jan 4, 2017 RCV000770068.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Feb 1, 2021 RCV000725811.5
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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
7705 17950

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 09, 2018)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000642988.2
Submitted: (Apr 02, 2018)
Evidence details
Uncertain significance
(Jun 19, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000701149.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jan 04, 2017)
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: SCV000901494.1
Submitted: (Apr 30, 2018)
Evidence details
Likely benign
(Oct 21, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000730355.2
Submitted: (Oct 01, 2021)
Evidence details
Uncertain significance
(Feb 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001152985.7
Submitted: (Jul 04, 2021)
Evidence details

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 rs771419718...

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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 Nov 27, 2021