ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7280C>T (p.Ala2427Val)

gnomAD frequency: 0.00001  dbSNP: rs1343869103
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788664 SCV000927855 uncertain significance not provided 2018-08-14 criteria provided, single submitter clinical testing
Invitae RCV000794882 SCV000934316 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000788664 SCV001981939 uncertain significance not provided 2021-09-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 636749; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918)
Ambry Genetics RCV003279061 SCV004004576 uncertain significance Cardiovascular phenotype 2023-03-16 criteria provided, single submitter clinical testing The p.A2427V variant (also known as c.7280C>T), located in coding exon 44 of the FLNC gene, results from a C to T substitution at nucleotide position 7280. The alanine at codon 2427 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Institute of Human Genetics, University of Wuerzburg RCV003117578 SCV003797050 uncertain significance Cardiomyopathy no assertion criteria provided clinical testing

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