ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7546G>A (p.Glu2516Lys)

gnomAD frequency: 0.00002  dbSNP: rs373691962
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686476 SCV000813995 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388199 SCV002672054 uncertain significance Cardiovascular phenotype 2019-06-24 criteria provided, single submitter clinical testing The p.E2516K variant (also known as c.7546G>A), located in coding exon 45 of the FLNC gene, results from a G to A substitution at nucleotide position 7546. The glutamic acid at codon 2516 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly 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.
Revvity Omics, Revvity RCV003144485 SCV003831447 uncertain significance not provided 2020-06-10 criteria provided, single submitter clinical testing
GeneDx RCV003144485 SCV004012328 uncertain significance not provided 2023-06-06 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; This variant is associated with the following publications: (PMID: 26582918)

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