ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1766C>T (p.Ser589Leu)

gnomAD frequency: 0.00001  dbSNP: rs780098760
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000703671 SCV000832581 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-04-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002406641 SCV002716802 uncertain significance Cardiovascular phenotype 2022-09-25 criteria provided, single submitter clinical testing The p.S589L variant (also known as c.1766C>T), located in coding exon 11 of the FLNC gene, results from a C to T substitution at nucleotide position 1766. The serine at codon 589 is replaced by leucine, an amino acid with dissimilar 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.
Fulgent Genetics, Fulgent Genetics RCV002477623 SCV002804031 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-12-28 criteria provided, single submitter clinical testing

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