ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5686G>A (p.Val1896Met)

gnomAD frequency: 0.00001  dbSNP: rs891651799
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649144 SCV000770969 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-06-21 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000788647 SCV000927834 uncertain significance not provided 2018-08-06 criteria provided, single submitter clinical testing
GeneDx RCV000788647 SCV002571324 uncertain significance not provided 2022-03-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002343338 SCV002653914 uncertain significance Cardiovascular phenotype 2024-03-04 criteria provided, single submitter clinical testing The p.V1896M variant (also known as c.5686G>A), located in coding exon 35 of the FLNC gene, results from a G to A substitution at nucleotide position 5686. The valine at codon 1896 is replaced by methionine, 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 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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