ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4054C>A (p.Arg1352Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002321318 SCV002631922 uncertain significance Cardiovascular phenotype 2023-06-06 criteria provided, single submitter clinical testing The c.4054C>A (p.R1352S) alteration is located in exon 23 (coding exon 23) of the FLNC gene. This alteration results from a C to A substitution at nucleotide position 4054, causing the arginine (R) at amino acid position 1352 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Invitae RCV003102511 SCV003510022 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-08-01 criteria provided, single submitter clinical testing
GeneDx RCV003443033 SCV004169488 uncertain significance not provided 2023-05-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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