ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6608G>A (p.Arg2203His)

gnomAD frequency: 0.00001  dbSNP: rs1063262
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001063688 SCV001228547 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-10-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 2203 of the FLNC protein (p.Arg2203His). This variant is present in population databases (rs1063262, gnomAD 0.005%). 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: 857916). 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.
GeneDx RCV001577292 SCV001804645 likely benign not provided 2021-05-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 857916; Landrum et al., 2016)
Ambry Genetics RCV002365749 SCV002663444 uncertain significance Cardiovascular phenotype 2022-06-14 criteria provided, single submitter clinical testing The p.R2203H variant (also known as c.6608G>A), located in coding exon 40 of the FLNC gene, results from a G to A substitution at nucleotide position 6608. The arginine at codon 2203 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. 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 RCV001577292 SCV003833173 uncertain significance not provided 2019-07-22 criteria provided, single submitter clinical testing

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