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
Invitae RCV000549865 SCV000651104 likely pathogenic Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2019-03-11 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). This variant has been observed to be de novo in an individual affected with structural heart defects and hypertrophic cardiomyopathy (Invitae). ClinVar contains an entry for this variant (Variation ID: 472122). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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 create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Institute of Human Genetics,University of Wuerzburg RCV000850350 SCV000992526 likely pathogenic Restrictive cardiomyopathy no assertion criteria provided clinical testing

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