ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3022C>T (p.Arg1008Cys)

gnomAD frequency: 0.00002  dbSNP: rs757969015
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552673 SCV000650970 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV001550424 SCV001770749 uncertain significance not provided 2022-12-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV002438467 SCV002753090 uncertain significance Cardiovascular phenotype 2023-11-01 criteria provided, single submitter clinical testing The p.R1008C variant (also known as c.3022C>T), located in coding exon 20 of the FLNC gene, results from a C to T substitution at nucleotide position 3022. The arginine at codon 1008 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002506360 SCV002816379 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-09-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001550424 SCV003833098 uncertain significance not provided 2023-01-11 criteria provided, single submitter clinical testing

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