ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2065G>A (p.Glu689Lys)

gnomAD frequency: 0.00001  dbSNP: rs1446694237
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001866263 SCV002188150 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-04-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 689 of the FLNC protein (p.Glu689Lys). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1284495). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
CeGaT Center for Human Genetics Tuebingen RCV001698750 SCV002497556 uncertain significance not provided 2022-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496019 SCV002780414 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-12-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001698750 SCV001917058 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001698750 SCV001958880 uncertain significance not provided no assertion criteria provided clinical testing

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