ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2296C>T (p.Arg766Trp)

gnomAD frequency: 0.00019  dbSNP: rs200215340
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534354 SCV000650940 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001564850 SCV001788078 uncertain significance not provided 2023-10-06 criteria provided, single submitter clinical testing Reported in a patient with a history of sudden cardiac arrest in the published literature (PMID: 33652119); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33652119)
Ambry Genetics RCV002448761 SCV002733943 uncertain significance Cardiovascular phenotype 2022-11-23 criteria provided, single submitter clinical testing The p.R766W variant (also known as c.2296C>T), located in coding exon 15 of the FLNC gene, results from a C to T substitution at nucleotide position 2296. The arginine at codon 766 is replaced by tryptophan, an amino acid with 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.
Fulgent Genetics, Fulgent Genetics RCV002497174 SCV002812703 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-08-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001564850 SCV003833156 uncertain significance not provided 2021-11-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001564850 SCV004010722 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing

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