ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7423G>A (p.Val2475Ile)

gnomAD frequency: 0.00001  dbSNP: rs191224002
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000824378 SCV000965274 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381885 SCV002674491 uncertain significance Cardiovascular phenotype 2024-06-17 criteria provided, single submitter clinical testing The c.7423G>A (p.V2475I) alteration is located in exon 45 (coding exon 45) of the FLNC gene. This alteration results from a G to A substitution at nucleotide position 7423, causing the valine (V) at amino acid position 2475 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003489919 SCV004234825 uncertain significance not provided 2023-06-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005036230 SCV005672934 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2024-06-10 criteria provided, single submitter clinical testing

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