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
Labcorp Genetics (formerly Invitae), Labcorp 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 likely benign Cardiovascular phenotype 2024-04-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
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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