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NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
4 (Most recent: Oct 15, 2021)
Last evaluated:
Sep 13, 2019
Accession:
VCV000569766.5
Variation ID:
569766
Description:
single nucleotide variant
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NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met)

Allele ID
561488
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.1
Genomic location
7: 128850872 (GRCh38) GRCh38 UCSC
7: 128490926 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_870:g.25444C>T
NM_001458.4:c.5468C>T NP_001449.3:p.Thr1823Met missense
LRG_870t1:c.5468C>T LRG_870p1:p.Thr1823Met
... more HGVS
Protein change
T1823M, T1790M
Other names
-
Canonical SPDI
NC_000007.14:128850871:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00006
1000 Genomes Project 0.00060
The Genome Aggregation Database (gnomAD), exomes 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00005
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Exome Aggregation Consortium (ExAC) 0.00005
The Genome Aggregation Database (gnomAD) 0.00013
Links
dbSNP: rs140857707
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 Sep 13, 2019 RCV000690475.2
Uncertain significance 3 no assertion criteria provided - RCV001573588.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FLNC Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1520 2372
FLNC-AS1 - - - GRCh38 - 837

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 13, 2019)
criteria provided, single submitter
Method: clinical testing
Myopathy, distal, 4
Dilated Cardiomyopathy, Dominant
Myofibrillar myopathy, filamin C-related
Cardiomyopathy, familial hypertrophic, 26
Allele origin: germline
Invitae
Accession: SCV000818161.2
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces threonine with methionine at codon 1823 of the FLNC protein (p.Thr1823Met). The threonine residue is highly conserved and there is a … (more)
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV001799705.1
Submitted: (Aug 19, 2021)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001927898.1
Submitted: (Sep 23, 2021)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001979587.1
Submitted: (Oct 15, 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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs140857707...

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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