ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3382G>A (p.Glu1128Lys)

gnomAD frequency: 0.00009  dbSNP: rs145724410
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215776 SCV001387538 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451474 SCV002618218 uncertain significance Cardiovascular phenotype 2023-10-06 criteria provided, single submitter clinical testing The p.E1128K variant (also known as c.3382G>A), located in coding exon 21 of the FLNC gene, results from a G to A substitution at nucleotide position 3382. The glutamic acid at codon 1128 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.
Revvity Omics, Revvity RCV003145399 SCV003831415 uncertain significance not provided 2020-03-02 criteria provided, single submitter clinical testing

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