ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.7289C>T (p.Ala2430Val) (rs200516164)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178551 SCV000230652 uncertain significance not provided 2015-02-17 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764688 SCV000895820 uncertain significance Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000649080 SCV000770905 uncertain significance Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2018-12-03 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 2430 of the FLNC protein (p.Ala2430Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs200516164, ExAC 0.02%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been reported in the literature in individuals with hypertrophic cardiomyopathy (PMID:25351925, 28356264) and in a control individual (PMID:26555887). ClinVar contains an entry for this variant (Variation ID: 197502). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.