ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4699C>T (p.Arg1567Trp)

gnomAD frequency: 0.00002  dbSNP: rs369842920
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792385 SCV000931681 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487644 SCV002791885 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-09-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307422 SCV004006274 uncertain significance Cardiovascular phenotype 2023-06-03 criteria provided, single submitter clinical testing The p.R1567W variant (also known as c.4699C>T), located in coding exon 27 of the FLNC gene, results from a C to T substitution at nucleotide position 4699. The arginine at codon 1567 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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