ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.4581-5T>A (rs368660628)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080589 SCV000651035 benign Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000599018 SCV000710005 uncertain significance not provided 2018-10-05 criteria provided, single submitter clinical testing The c.4581-5 T>A variant of uncertain significance in the FLNC gene has not been published as pathogenic or been reported as benign to our knowledge. The c.4581-5 T>A variant has been observed in 78/23,996 (0.33%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). This variant is predicted to damage or destroy the natural splice acceptor site in intron 26. The c.4581-5 T>A variant may cause abnormal gene splicing; however, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined.

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