ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3317A>G (p.Lys1106Arg)

gnomAD frequency: 0.00001  dbSNP: rs1349933620
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002011726 SCV002298883 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004046669 SCV005017780 uncertain significance Cardiovascular phenotype 2024-02-01 criteria provided, single submitter clinical testing The p.K1106R variant (also known as c.3317A>G), located in coding exon 21 of the FLNC gene, results from an A to G substitution at nucleotide position 3317. The lysine at codon 1106 is replaced by arginine, an amino acid with highly 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 alteration remains unclear.

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