ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3800G>A (p.Arg1267Gln)

gnomAD frequency: 0.00003  dbSNP: rs768767784
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649139 SCV000770964 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358859 SCV002622784 uncertain significance Cardiovascular phenotype 2023-06-29 criteria provided, single submitter clinical testing The p.R1267Q variant (also known as c.3800G>A), located in coding exon 22 of the FLNC gene, results from a G to A substitution at nucleotide position 3800. The arginine at codon 1267 is replaced by glutamine, 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.
Revvity Omics, Revvity RCV003144441 SCV003833085 uncertain significance not provided 2022-06-13 criteria provided, single submitter clinical testing

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