ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5111T>C (p.Ile1704Thr)

gnomAD frequency: 0.00001  dbSNP: rs752850659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228218 SCV001400606 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339621 SCV002642563 uncertain significance Cardiovascular phenotype 2024-01-11 criteria provided, single submitter clinical testing The p.I1704T variant (also known as c.5111T>C), located in coding exon 30 of the FLNC gene, results from a T to C substitution at nucleotide position 5111. The isoleucine at codon 1704 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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.

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