ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2967C>A (p.Asn989Lys)

gnomAD frequency: 0.00001  dbSNP: rs775727204
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059891 SCV001224545 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436635 SCV002751559 uncertain significance Cardiovascular phenotype 2021-10-19 criteria provided, single submitter clinical testing The p.N989K variant (also known as c.2967C>A), located in coding exon 20 of the FLNC gene, results from a C to A substitution at nucleotide position 2967. The asparagine at codon 989 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003145318 SCV003833049 uncertain significance not provided 2023-01-23 criteria provided, single submitter clinical testing

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