ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7310G>A (p.Arg2437Gln)

gnomAD frequency: 0.00002  dbSNP: rs201762568
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649109 SCV000770934 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386093 SCV002671021 uncertain significance Cardiovascular phenotype 2023-05-12 criteria provided, single submitter clinical testing The p.R2437Q variant (also known as c.7310G>A), located in coding exon 44 of the FLNC gene, results from a G to A substitution at nucleotide position 7310. The arginine at codon 2437 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is 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 RCV002477440 SCV002792827 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-07-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144439 SCV003833031 uncertain significance not provided 2020-07-08 criteria provided, single submitter clinical testing

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