ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1474A>G (p.Lys492Glu)

gnomAD frequency: 0.00029  dbSNP: rs118056738
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527260 SCV000650905 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003144346 SCV001962094 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing FLNC: BS1
Ambry Genetics RCV002395437 SCV002701088 uncertain significance Cardiovascular phenotype 2023-08-07 criteria provided, single submitter clinical testing The p.K492E variant (also known as c.1474A>G), located in coding exon 9 of the FLNC gene, results from an A to G substitution at nucleotide position 1474. The lysine at codon 492 is replaced by glutamic acid, an amino acid with similar properties. This variant has been detected in patients from hypertrophic and dilated cardiomyopathy cohorts with limited detail, and in cohorts not selected for cardiovascular diagnoses including in a Rett syndrome cohort and a frontotemporal dementia cohort (Janssens J et al. Acta Neuropathol Commun. 2015 Nov;3:68; Gómez J et al. Circ Cardiovasc Genet, 2017 Apr;10; Sajan SA et al. Genet. Med., 2017 01;19:13-19; van Lint FHM et al. Neth Heart J, 2019 Jun;27:304-309). 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.
Revvity Omics, Revvity RCV003144346 SCV003833153 uncertain significance not provided 2023-11-16 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150271 SCV003838347 likely benign Cardiomyopathy 2021-09-21 criteria provided, single submitter clinical testing

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