ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3004C>T (p.Arg1002Trp)

gnomAD frequency: 0.00004  dbSNP: rs555764780
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222334 SCV001394428 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-08-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1002 of the FLNC protein (p.Arg1002Trp). This variant is present in population databases (rs555764780, gnomAD 0.01%). 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: 950591). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002436863 SCV002748671 uncertain significance Cardiovascular phenotype 2023-06-14 criteria provided, single submitter clinical testing The p.R1002W variant (also known as c.3004C>T), located in coding exon 20 of the FLNC gene, results from a C to T substitution at nucleotide position 3004. The arginine at codon 1002 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002497758 SCV002778866 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-11-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003490135 SCV004234817 uncertain significance not provided 2023-08-10 criteria provided, single submitter clinical testing

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