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NM_001458.5(FLNC):c.5216C>T (p.Pro1739Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 2, 2021)
Last evaluated:
Dec 6, 2019
Accession:
VCV000472094.3
Variation ID:
472094
Description:
single nucleotide variant
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NM_001458.5(FLNC):c.5216C>T (p.Pro1739Leu)

Allele ID
456871
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.1
Genomic location
7: 128849992 (GRCh38) GRCh38 UCSC
7: 128490046 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.128490046C>T
NC_000007.14:g.128849992C>T
NG_011807.1:g.24564C>T
... more HGVS
Protein change
P1739L
Other names
-
Canonical SPDI
NC_000007.14:128849991:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00008
Exome Aggregation Consortium (ExAC) 0.00007
Trans-Omics for Precision Medicine (TOPMed) 0.00009
The Genome Aggregation Database (gnomAD) 0.00010
Trans-Omics for Precision Medicine (TOPMed) 0.00011
Links
ClinGen: CA4475609
dbSNP: rs745650222
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 Nov 18, 2019 RCV000548109.3
Uncertain significance 1 criteria provided, single submitter Dec 6, 2019 RCV001755876.1
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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

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 18, 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: SCV000651064.3
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces proline with leucine at codon 1739 of the FLNC protein (p.Pro1739Leu). The proline residue is moderately conserved and there is a … (more)
Uncertain significance
(Dec 06, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001995310.1
Submitted: (Nov 02, 2021)
Evidence details
Comment:
Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance but additional evidence is … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs745650222...

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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