ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.8178A>G (p.Ter2726Trp) (rs1563006225)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695617 SCV000824128 uncertain significance Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2018-04-24 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the FLNC mRNA. It is expected to extend the length of the FLNC protein by 47 additional amino acid residues. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FLNC-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the extended amino acids is currently unknown. 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.

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