ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4880G>A (p.Arg1627His)

gnomAD frequency: 0.00004  dbSNP: rs751592993
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000659090 SCV000344356 uncertain significance not provided 2016-08-11 criteria provided, single submitter clinical testing
Invitae RCV000649149 SCV000770974 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-11-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000659090 SCV000780900 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000659090 SCV001804941 uncertain significance not provided 2018-10-12 criteria provided, single submitter clinical testing In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002338860 SCV002638733 uncertain significance Cardiovascular phenotype 2019-09-16 criteria provided, single submitter clinical testing The p.R1627H variant (also known as c.4880G>A), located in coding exon 28 of the FLNC gene, results from a G to A substitution at nucleotide position 4880. The arginine at codon 1627 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is 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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