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NM_001458.5(FLNC):c.1186A>G (p.Thr396Ala)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Aug 10, 2017
Accession:
VCV000539398.1
Variation ID:
539398
Description:
single nucleotide variant
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NM_001458.5(FLNC):c.1186A>G (p.Thr396Ala)

Allele ID
522883
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.1
Genomic location
7: 128838405 (GRCh38) GRCh38 UCSC
7: 128478459 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001458.4:c.1186A>G NP_001449.3:p.Thr396Ala missense
NC_000007.13:g.128478459A>G
NC_000007.14:g.128838405A>G
... more HGVS
Protein change
T396A
Other names
-
Canonical SPDI
NC_000007.14:128838404:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA369224283
dbSNP: rs1437029966
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 10, 2017 RCV000649128.1
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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

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 10, 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: SCV000770953.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces threonine with alanine at codon 396 of the FLNC protein (p.Thr396Ala). The threonine 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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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 rs1437029966...

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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