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NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Aug 19, 2021)
Last evaluated:
Jun 25, 2020
Accession:
VCV000281972.4
Variation ID:
281972
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln)

Allele ID
266209
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178612850 (GRCh38) GRCh38 UCSC
2: 179477577 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179477577C>T
NC_000002.12:g.178612850C>T
NM_001267550.2:c.49871G>A MANE Select NP_001254479.2:p.Arg16624Gln missense
... more HGVS
Protein change
R14983Q, R14056Q, R16624Q, R7684Q, R7751Q, R7559Q
Other names
-
Canonical SPDI
NC_000002.12:178612849:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00016
Trans-Omics for Precision Medicine (TOPMed) 0.00017
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00025
1000 Genomes Project 0.00060
Exome Aggregation Consortium (ExAC) 0.00014
The Genome Aggregation Database (gnomAD) 0.00019
Links
ClinGen: CA1994499
dbSNP: rs367566671
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 Jun 2, 2017 RCV000537749.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Jun 25, 2020 RCV000370129.5
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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
7377 17355
TTN-AS1 - - - GRCh38 - 9755

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 02, 2017)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV000643283.1
Submitted: (Oct 05, 2017)
Evidence details
Uncertain significance
(Sep 22, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000335584.3
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jun 25, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001146419.2
Submitted: (Dec 30, 2020)
Evidence details
Likely benign
(Dec 08, 2020)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001793213.1
Submitted: (Aug 19, 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 rs367566671...

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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 Aug 27, 2021