ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6748A>C (p.Met2250Leu)

gnomAD frequency: 0.00001  dbSNP: rs923795184
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036816 SCV001200199 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV002266989 SCV002549461 uncertain significance not provided 2022-01-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000656200 SCV000678394 uncertain significance Wolff-Parkinson-White pattern 2017-07-14 no assertion criteria provided research This variant was identified in an individual with Wolff-Parkinson-White syndrome

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