ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5432G>A (p.Arg1811Gln)

gnomAD frequency: 0.00014  dbSNP: rs369759751
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706225 SCV000835264 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV001772008 SCV001993718 uncertain significance not provided 2019-05-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Observed in 0.0087% (24/277040) of global alleles in large population cohorts (Lek et al., 2016); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 582215; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002343567 SCV002649045 uncertain significance Cardiovascular phenotype 2023-05-18 criteria provided, single submitter clinical testing The p.R1811Q variant (also known as c.5432G>A), located in coding exon 33 of the FLNC gene, results from a G to A substitution at nucleotide position 5432. The arginine at codon 1811 is replaced by glutamine, an amino acid with highly similar 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 RCV002485770 SCV002786088 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-09-17 criteria provided, single submitter clinical testing

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