ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6559C>T (p.Arg2187Cys)

gnomAD frequency: 0.00001  dbSNP: rs747336635
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002222792 SCV002499861 uncertain significance not provided 2022-08-11 criteria provided, single submitter clinical testing Has been reported as a variant of uncertain significance in an individual with arrhythmogenic cardiomyopathy in published literature (Verdonschot et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32112656)
Fulgent Genetics, Fulgent Genetics RCV002496150 SCV002782399 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-07-29 criteria provided, single submitter clinical testing
Invitae RCV003774643 SCV004610067 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-07-14 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 2187 of the FLNC protein (p.Arg2187Cys). This variant is present in population databases (no rsID available, gnomAD 0.002%). This missense change has been observed in individual(s) with arrhythmogenic cardiomyopathy (PMID: 32112656). ClinVar contains an entry for this variant (Variation ID: 1676876). 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. 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.

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