ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6779A>G (p.Lys2260Arg)

gnomAD frequency: 0.00003  dbSNP: rs751019991
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000649108 SCV000770933 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360621 SCV002661711 likely benign Cardiovascular phenotype 2024-06-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV003144438 SCV003833185 uncertain significance not provided 2020-07-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003144438 SCV004161048 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing FLNC: BP4
New York Genome Center RCV003448330 SCV004176072 uncertain significance Hypertrophic cardiomyopathy 26 2023-08-09 criteria provided, single submitter clinical testing The c.6779A>G, p.(Lys2260Arg) variant identified in the FLNC gene is a missense variant predicted to substitute a Lysine for Arginine at amino acid 2260/2762 (exon 41/48). This variant is found with low frequency in population databases (gnomADv2.1.1, gnomADv3.1.2, BRAVO-TOPMed, All of US; allele frequency: <0.0001, 0 homozygotes) suggesting it is not a common benign variant in the populations represented in those databases. The c.6779A>G, p.(Lys2260Arg) variant has been reported in ClinVar as both a Variant of Uncertain Significance and Likely Benign (VarID: 539380), and to our current knowledge has not been reported in affected individuals in the literature. Given the lack of compelling evidence for its pathogenicity, the c.6779A>G, p.(Lys2260Arg) variant identified in the FLNC gene is reported as a Variant of Uncertain Significance.

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