ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3310G>A (p.Glu1104Lys)

gnomAD frequency: 0.00002  dbSNP: rs535109443
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066386 SCV001231393 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001570850 SCV001795212 uncertain significance not provided 2022-11-21 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
Revvity Omics, Revvity RCV001570850 SCV003833047 uncertain significance not provided 2019-07-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160546 SCV003856291 uncertain significance Cardiovascular phenotype 2023-03-08 criteria provided, single submitter clinical testing The p.E1104K variant (also known as c.3310G>A), located in coding exon 21 of the FLNC gene, results from a G to A substitution at nucleotide position 3310. The glutamic acid at codon 1104 is replaced by lysine, an amino acid with 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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