ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3080G>A (p.Arg1027His)

gnomAD frequency: 0.00001  dbSNP: rs904161285
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001920049 SCV002158910 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-11-20 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FLNC protein function. ClinVar contains an entry for this variant (Variation ID: 1396811). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1027 of the FLNC protein (p.Arg1027His).
Ambry Genetics RCV002319734 SCV002608869 uncertain significance Cardiovascular phenotype 2024-03-02 criteria provided, single submitter clinical testing The p.R1027H variant (also known as c.3080G>A), located in coding exon 20 of the FLNC gene, results from a G to A substitution at nucleotide position 3080. The arginine at codon 1027 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Revvity Omics, Revvity RCV003146317 SCV003833046 uncertain significance not provided 2022-11-03 criteria provided, single submitter clinical testing

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