ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3475C>T (p.Arg1159Trp)

gnomAD frequency: 0.00001  dbSNP: rs760500171
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416038 SCV000493663 uncertain significance not provided 2016-07-31 criteria provided, single submitter clinical testing
Invitae RCV000549914 SCV000650984 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-07-06 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 1159 of the FLNC protein (p.Arg1159Trp). This variant is present in population databases (rs760500171, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of FLNC-related conditions (PMID: 30418145). ClinVar contains an entry for this variant (Variation ID: 374760). 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: "Possibly 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 RCV002338978 SCV002618564 uncertain significance Cardiovascular phenotype 2020-07-29 criteria provided, single submitter clinical testing The p.R1159W variant (also known as c.3475C>T), located in coding exon 21 of the FLNC gene, results from a C to T substitution at nucleotide position 3475. The arginine at codon 1159 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.
Revvity Omics, Revvity RCV000416038 SCV003833155 uncertain significance not provided 2022-05-23 criteria provided, single submitter clinical testing

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