ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7228C>T (p.Arg2410Cys)

gnomAD frequency: 0.00002  dbSNP: rs750686083
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242147 SCV001415215 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-11-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491809 SCV002789561 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2022-05-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145469 SCV003833206 uncertain significance not provided 2019-10-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003145469 SCV004564304 uncertain significance not provided 2023-01-03 criteria provided, single submitter clinical testing The FLNC c.7228C>T; p.Arg2410Cys variant (rs750686083) is reported in the literature in an individual affected with hypertrophic cardiomyopathy (Ader 2018). This variant is also reported in ClinVar (Variation ID: 967275), but is only observed on six alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The arginine at codon 2410 is highly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.641). Due to limited information, the clinical significance of this variant is uncertain at this time. References: Ader F et al. (Genotype-phenotype correlations of pathogenic variants in the FLNC gene). Med Sci (Paris). 2018 Nov;34 Hors serie no2:39-41. French. PMID: 30418145.

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