ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.6031G>A (p.Gly2011Arg) (rs1554400962)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,University of Wuerzburg RCV000850350 SCV000992526 likely pathogenic Restrictive cardiomyopathy no assertion criteria provided clinical testing
Invitae RCV000549865 SCV000651104 uncertain significance Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2018-10-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 2011 of the FLNC protein (p.Gly2011Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FLNC-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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