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NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Aug 2, 2017)
Last evaluated:
May 29, 2017
Accession:
VCV000372284.3
Variation ID:
372284
Description:
single nucleotide variant
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NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln)

Allele ID
359192
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q13.1
Genomic location
4: 64309896 (GRCh38) GRCh38 UCSC
4: 65175614 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.65175614C>T
NC_000004.12:g.64309896C>T
NG_053152.1:g.104614G>A
... more HGVS
Protein change
R196Q
Other names
-
Canonical SPDI
NC_000004.12:64309895:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA2935458
OMIM: 617242.0002
dbSNP: rs773204795
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 29, 2017 RCV000623303.2
Pathogenic 1 no assertion criteria provided Feb 28, 2020 RCV000412644.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TECRL - - GRCh38
GRCh37
86 103

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 29, 2017)
criteria provided, single submitter
Method: clinical testing
None
Allele origin: germline
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute
Accession: SCV000740413.1
Submitted: (Aug 02, 2017)
Evidence details
Pathogenic
(Feb 28, 2020)
no assertion criteria provided
Method: literature only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3
Allele origin: germline
OMIM
Accession: SCV000490359.1
Submitted: (Dec 08, 2016)
Evidence details
Publications
PubMed (2)

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
A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family. Xie L European journal of medical genetics 2019 PMID: 30790670
TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT. Devalla HD EMBO molecular medicine 2016 PMID: 27861123

Text-mined citations for rs773204795...

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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 29, 2021