ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6569G>A (p.Arg2190His)

gnomAD frequency: 0.00003  dbSNP: rs762680314
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649147 SCV000770972 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-09-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162968 SCV003859306 uncertain significance Cardiovascular phenotype 2022-11-28 criteria provided, single submitter clinical testing The p.R2190H variant (also known as c.6569G>A), located in coding exon 40 of the FLNC gene, results from a G to A substitution at nucleotide position 6569. The arginine at codon 2190 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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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