ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1673G>A (p.Arg558His)

dbSNP: rs776881635
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649074 SCV000770899 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-09-03 criteria provided, single submitter clinical testing
GeneDx RCV001766401 SCV001990095 uncertain significance not provided 2019-05-22 criteria provided, single submitter clinical testing Reported in a patient with severe DCM who also harbors a 1p36 chromosomal deletion (Herkert et al., 2018); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 29517769)
Ambry Genetics RCV003372788 SCV004095988 uncertain significance Cardiovascular phenotype 2023-08-03 criteria provided, single submitter clinical testing The p.R558H variant (also known as c.1673G>A), located in coding exon 10 of the FLNC gene, results from a G to A substitution at nucleotide position 1673. The arginine at codon 558 is replaced by histidine, an amino acid with highly similar properties. This variant has been detected in a case with dilated cardiomyopathy and congenital heart defects who also had a 1p36 deletion (Herkert JC et al. Genet Med, 2018 Nov;20:1374-1386). 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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