ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1094A>G (p.Glu365Gly)

gnomAD frequency: 0.00011  dbSNP: rs752027721
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649063 SCV000770888 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002449072 SCV002734495 uncertain significance Cardiovascular phenotype 2024-03-06 criteria provided, single submitter clinical testing The p.E365G variant (also known as c.1094A>G), located in coding exon 7 of the FLNC gene, results from an A to G substitution at nucleotide position 1094. The glutamic acid at codon 365 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003144434 SCV003833104 uncertain significance not provided 2019-07-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003144434 SCV004224102 uncertain significance not provided 2022-12-21 criteria provided, single submitter clinical testing

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