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NM_001458.5(FLNC):c.4480C>T (p.Arg1494Trp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 22, 2020
Accession:
VCV000472067.4
Variation ID:
472067
Description:
single nucleotide variant
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NM_001458.5(FLNC):c.4480C>T (p.Arg1494Trp)

Allele ID
456849
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.1
Genomic location
7: 128847968 (GRCh38) GRCh38 UCSC
7: 128488022 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.14:g.128847968C>T
NG_011807.1:g.22540C>T
NM_001127487.2:c.4480C>T NP_001120959.1:p.Arg1494Trp missense
... more HGVS
Protein change
R1494W
Other names
-
Canonical SPDI
NC_000007.14:128847967:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00005
The Genome Aggregation Database (gnomAD) 0.00013
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00009
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00010
Links
ClinGen: CA4475355
dbSNP: rs779079128
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 Aug 22, 2020 RCV000529464.5
Uncertain significance 1 criteria provided, single submitter Aug 7, 2018 RCV000714608.2
Uncertain significance 1 criteria provided, single submitter Aug 7, 2018 RCV000714609.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FLNC Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1520 2372

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 07, 2018)
criteria provided, single submitter
Method: clinical testing
Myofibrillar myopathy, filamin C-related
Allele origin: unknown
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000845318.1
Submitted: (Aug 07, 2018)
Evidence details
Uncertain significance
(Aug 07, 2018)
criteria provided, single submitter
Method: clinical testing
Myopathy, distal, 4
Allele origin: unknown
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000845319.1
Submitted: (Aug 07, 2018)
Evidence details
Uncertain significance
(Aug 22, 2020)
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: SCV000651031.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with tryptophan at codon 1494 of the FLNC protein (p.Arg1494Trp). The arginine residue is moderately conserved and there is a … (more)

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 rs779079128...

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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 Dec 04, 2021