ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6568C>T (p.Arg2190Cys)

gnomAD frequency: 0.00001  dbSNP: rs1474675847
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001344769 SCV001538846 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-08-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 2190 of the FLNC protein (p.Arg2190Cys). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1041025). This variant has not been reported in the literature in individuals affected with FLNC-related conditions.
Mayo Clinic Laboratories, Mayo Clinic RCV002261351 SCV002540908 uncertain significance not provided 2021-07-29 criteria provided, single submitter clinical testing

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