ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6689G>A (p.Arg2230His)

gnomAD frequency: 0.00012  dbSNP: rs376035195
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687144 SCV000814696 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001592866 SCV001815408 likely benign not provided 2021-01-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 567146; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002360721 SCV002664858 uncertain significance Cardiovascular phenotype 2022-08-19 criteria provided, single submitter clinical testing The p.R2230H variant (also known as c.6689G>A), located in coding exon 40 of the FLNC gene, results from a G to A substitution at nucleotide position 6689. The arginine at codon 2230 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not well 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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