ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4825C>T (p.Arg1609Trp)

gnomAD frequency: 0.00003  dbSNP: rs374756527
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809766 SCV000949940 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-07-28 criteria provided, single submitter clinical testing
GeneDx RCV001585738 SCV001819432 uncertain significance not provided 2021-05-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 653911; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV004028681 SCV005017712 uncertain significance Cardiovascular phenotype 2023-09-23 criteria provided, single submitter clinical testing The p.R1609W variant (also known as c.4825C>T), located in coding exon 28 of the FLNC gene, results from a C to T substitution at nucleotide position 4825. The arginine at codon 1609 is replaced by tryptophan, an amino acid with dissimilar 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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