ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5221G>A (p.Glu1741Lys)

gnomAD frequency: 0.00024  dbSNP: rs200792813
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528792 SCV000651065 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001545254 SCV001764551 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 472095; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002341425 SCV002642035 uncertain significance Cardiovascular phenotype 2022-02-01 criteria provided, single submitter clinical testing The p.E1741K variant (also known as c.5221G>A), located in coding exon 31 of the FLNC gene, results from a G to A substitution at nucleotide position 5221. The glutamic acid at codon 1741 is replaced by lysine, an amino acid with similar properties. This amino acid position is poorly 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 RCV001545254 SCV003833045 uncertain significance not provided 2023-08-29 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224330 SCV003919981 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-03-30 criteria provided, single submitter clinical testing FLNC NM_001458.4 exon 31 p.Glu1741Lys (c.5221G>A): This variant has not been reported in the literature and is present in 0.04% (7/14872) of European alleles in the Genome Aggregation Database (http://gnomad-old.broadinstitute.org/variant/7-128490051-G-A). This variant is present in ClinVar (Variation ID:472095). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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