ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.178C>T (p.Arg60Cys) (rs28928900)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768709 SCV000900079 uncertain significance Cardiomyopathy 2015-09-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156772 SCV000206493 uncertain significance not specified 2014-08-25 criteria provided, single submitter clinical testing The Arg60Cys variant in LMNA has not been previously reported in individuals wit h cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis suggest that the Arg60Cys variant may impact the prote in, though this information is not predictive enough to determine pathogenicity. Additionally, another variant has been reported at this position (Arg60Gly) and is classified as likely pathogenic for DCM with or without conduction disease a nd lipodystrophy (Fatkin 1999, van der Kooi 2002, Subramanyam 2009, Carboni 2010 , Zwerger 2013), raising the possibility that a change at this position may not be tolerated. In summary, the clinical significance of the Arg60Cys variant is u ncertain.

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