ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5257C>A (p.Pro1753Thr)

gnomAD frequency: 0.00002  dbSNP: rs573399358
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818866 SCV000959502 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-03-24 criteria provided, single submitter clinical testing
GeneDx RCV002305544 SCV002599655 uncertain significance not provided 2022-05-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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