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NM_001458.5(FLNC):c.5813C>T (p.Pro1938Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Nov 15, 2017
Accession:
VCV000539338.1
Variation ID:
539338
Description:
single nucleotide variant
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NM_001458.5(FLNC):c.5813C>T (p.Pro1938Leu)

Allele ID
522648
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.1
Genomic location
7: 128851599 (GRCh38) GRCh38 UCSC
7: 128491653 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.128491653C>T
NC_000007.14:g.128851599C>T
NG_011807.1:g.26171C>T
... more HGVS
Protein change
P1938L, P1905L
Other names
-
Canonical SPDI
NC_000007.14:128851598:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA369208563
dbSNP: rs764747370
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 15, 2017 RCV000649065.1
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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
1517 2369
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
(Nov 15, 2017)
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: SCV000770890.1
Submitted: (Apr 02, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces proline with leucine at codon 1938 of the FLNC protein (p.Pro1938Leu). The proline residue is highly 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
Screening of the <i>Filamin C</i> Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients. Gómez J Circulation. Cardiovascular genetics 2017 PMID: 28356264

Text-mined citations for rs764747370...

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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 Oct 24, 2021