ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4744G>A (p.Glu1582Lys)

gnomAD frequency: 0.00004  dbSNP: rs753022721
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649097 SCV000770922 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-09-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144435 SCV003833035 uncertain significance not provided 2019-09-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025768 SCV005017785 uncertain significance Cardiovascular phenotype 2023-11-02 criteria provided, single submitter clinical testing The p.E1582K variant (also known as c.4744G>A), located in coding exon 28 of the FLNC gene, results from a G to A substitution at nucleotide position 4744. The glutamic acid at codon 1582 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. 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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