ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.6893C>T (p.Pro2298Leu) (rs1382734231)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690640 SCV000818337 uncertain significance Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2018-08-30 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 2298 of the FLNC protein (p.Pro2298Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with restrictive cardiomyopathy in a family (Invitae). 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 C0"). The observation of one or more missense substitutions at this codon (p.Pro2298Leu and p.Pro2298Ser) in affected individuals suggests that this may be a clinically significant residue (PMID: 28356264, Invitae). 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.
Stephanie Ware Laboratory,Indiana University School of Medicine RCV000714271 SCV000787752 pathogenic Restrictive cardiomyopathy 2018-04-01 criteria provided, single submitter research

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