ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3722G>A (p.Arg1241His)

gnomAD frequency: 0.00004  dbSNP: rs370520806
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001241271 SCV001414280 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348821 SCV002619557 uncertain significance Cardiovascular phenotype 2024-11-27 criteria provided, single submitter clinical testing The p.R1241H variant (also known as c.3722G>A), located in coding exon 21 of the FLNC gene, results from a G to A substitution at nucleotide position 3722. The arginine at codon 1241 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002480805 SCV002793468 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-10-21 criteria provided, single submitter clinical testing

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