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NM_001458.5(FLNC):c.5792G>A (p.Arg1931His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 2, 2021)
Last evaluated:
Jun 29, 2020
Accession:
VCV000472111.4
Variation ID:
472111
Description:
single nucleotide variant
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NM_001458.5(FLNC):c.5792G>A (p.Arg1931His)

Allele ID
456875
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.1
Genomic location
7: 128851578 (GRCh38) GRCh38 UCSC
7: 128491632 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.14:g.128851578G>A
NG_011807.1:g.26150G>A
NM_001127487.2:c.5693G>A NP_001120959.1:p.Arg1898His missense
... more HGVS
Protein change
R1931H, R1898H
Other names
-
Canonical SPDI
NC_000007.14:128851577:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00004
Links
ClinGen: CA369208463
dbSNP: rs780685346
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 29, 2020 RCV000548628.4
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000764687.1
Uncertain significance 1 criteria provided, single submitter Nov 11, 2019 RCV001755877.1
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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
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Myofibrillar myopathy, filamin C-related
Myopathy, distal, 4
Cardiomyopathy, familial hypertrophic, 26
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000895819.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Jun 29, 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: SCV000651090.4
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with histidine at codon 1931 of the FLNC protein (p.Arg1931His). The arginine residue is moderately conserved and there is a … (more)
Uncertain significance
(Nov 11, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001996891.1
Submitted: (Nov 02, 2021)
Evidence details
Comment:
Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., … (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
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs780685346...

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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