ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5285G>A (p.Arg1762His)

gnomAD frequency: 0.00005  dbSNP: rs779856224
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699175 SCV000827873 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343510 SCV002642052 uncertain significance Cardiovascular phenotype 2019-08-14 criteria provided, single submitter clinical testing The p.R1762H variant (also known as c.5285G>A), located in coding exon 31 of the FLNC gene, results from a G to A substitution at nucleotide position 5285. The arginine at codon 1762 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. 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.
Revvity Omics, Revvity RCV003144546 SCV003833607 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing

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