ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1469G>A (p.Arg490His)

gnomAD frequency: 0.00001  dbSNP: rs1046320257
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699919 SCV000828650 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-05-15 criteria provided, single submitter clinical testing
GeneDx RCV001585645 SCV001819154 uncertain significance not provided 2020-02-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV002388302 SCV002702182 uncertain significance Cardiovascular phenotype 2019-12-10 criteria provided, single submitter clinical testing The p.R490H variant (also known as c.1469G>A), located in coding exon 9 of the FLNC gene, results from a G to A substitution at nucleotide position 1469. The arginine at codon 490 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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