ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2737G>A (p.Glu913Lys)

gnomAD frequency: 0.00004  dbSNP: rs774707336
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001351237 SCV001545687 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001773705 SCV001992452 uncertain significance not provided 2022-08-30 criteria provided, single submitter clinical testing Reported in association with HCM (Cui et al., 2018); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30411535, 32112656)
Ambry Genetics RCV002438815 SCV002747774 uncertain significance Cardiovascular phenotype 2021-12-06 criteria provided, single submitter clinical testing The p.E913K variant (also known as c.2737G>A), located in coding exon 18 of the FLNC gene, results from a G to A substitution at nucleotide position 2737. The glutamic acid at codon 913 is replaced by lysine, an amino acid with similar properties. This variant has been detected in an individual from a hypertrophic cardiomyopathy cohort; however, details were limited (Cui H et al. Mol Genet Genomic Med, 2018 11;6:1104-1113). 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.
Fulgent Genetics, Fulgent Genetics RCV002476615 SCV002785291 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-08-20 criteria provided, single submitter clinical testing

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