ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.1519G>A (p.Gly507Arg) (rs189525930)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727134 SCV000706047 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000727134 SCV000565015 uncertain significance not provided 2018-07-26 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FLNC gene. The G507R variant has not been published as pathogenic in association with cardiomyopathy or been reported as benign to our knowledge. The G507R variant is observed in 160/126652 (0.13%) alleles from individuals of European (non-Finnish) ancestry in large population cohorts (Lek et al., 2016). Nevertheless, G507R is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.
Invitae RCV000552188 SCV000650907 likely benign Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 2017-12-21 criteria provided, single submitter clinical testing

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