ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5156G>A (p.Arg1719His)

gnomAD frequency: 0.00002  dbSNP: rs746777092
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228779 SCV001401197 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339624 SCV002641080 uncertain significance Cardiovascular phenotype 2021-09-08 criteria provided, single submitter clinical testing The p.R1719H variant (also known as c.5156G>A), located in coding exon 30 of the FLNC gene, results from a G to A substitution at nucleotide position 5156. The arginine at codon 1719 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Genetics and Molecular Pathology, SA Pathology RCV002466644 SCV002761866 uncertain significance Hypertrophic cardiomyopathy 26 2022-07-05 criteria provided, single submitter clinical testing

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