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NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Sep 25, 2021)
Last evaluated:
Oct 1, 2020
Accession:
VCV000202316.10
Variation ID:
202316
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met)

Allele ID
199150
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178589408 (GRCh38) GRCh38 UCSC
2: 179454135 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.246395C>A
NC_000002.11:g.179454135G>T
NC_000002.12:g.178589408G>T
... more HGVS
Protein change
L18205M, L20773M, L19132M, L11900M, L11708M, L11833M
Other names
p.L18205M:CTG>ATG
Canonical SPDI
NC_000002.12:178589407:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00048
Exome Aggregation Consortium (ExAC) 0.00007
Trans-Omics for Precision Medicine (TOPMed) 0.00025
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00033
The Genome Aggregation Database (gnomAD) 0.00029
The Genome Aggregation Database (gnomAD), exomes 0.00005
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00024
Links
ClinGen: CA309064
dbSNP: rs375173874
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Oct 1, 2020 RCV000184155.4
Uncertain significance 1 criteria provided, single submitter Dec 6, 2017 RCV000531028.2
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Jan 17, 2020 RCV000727330.4
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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
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
(Dec 06, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000643480.2
Submitted: (Apr 02, 2018)
Evidence details
Uncertain significance
(Dec 14, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000707596.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Oct 01, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001442592.1
Submitted: (Nov 10, 2020)
Evidence details
Comment:
Variant summary: TTN c.54613C>A (p.Leu18205Met) results in a conservative amino acid change located in the A-band domain of the encoded protein sequence. Five of five … (more)
Likely benign
(Jan 17, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000236772.10
Submitted: (Sep 25, 2021)
Evidence details
Likely benign
(Apr 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001152831.7
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 rs375173874...

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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