ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.719T>C (p.Ile240Thr)

dbSNP: rs778626535
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002023512 SCV002307013 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2021-07-25 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. This variant is present in population databases (rs778626535, ExAC 0.002%). This sequence change replaces isoleucine with threonine at codon 240 of the FLNC protein (p.Ile240Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine.
CeGaT Center for Human Genetics Tuebingen RCV003886548 SCV004702285 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing FLNC: PM2, PP3

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