ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6052C>T (p.Arg2018Cys)

gnomAD frequency: 0.00005  dbSNP: rs1335627502
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799685 SCV000939360 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352350 SCV002658427 uncertain significance Cardiovascular phenotype 2021-06-10 criteria provided, single submitter clinical testing The p.R2018C variant (also known as c.6052C>T), located in coding exon 37 of the FLNC gene, results from a C to T substitution at nucleotide position 6052. The arginine at codon 2018 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486931 SCV004240666 uncertain significance Cardiomyopathy 2023-05-26 criteria provided, single submitter clinical testing

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