ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6551C>G (p.Thr2184Ser)

gnomAD frequency: 0.00001  dbSNP: rs772588219
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000796628 SCV000936148 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2025-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV005338356 SCV006003341 uncertain significance Cardiovascular phenotype 2024-12-21 criteria provided, single submitter clinical testing The p.T2184S variant (also known as c.6551C>G), located in coding exon 40 of the FLNC gene, results from a C to G substitution at nucleotide position 6551. The threonine at codon 2184 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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