ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.232A>G (p.Lys78Glu) (rs876657851)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216833 SCV000271924 uncertain significance not specified 2015-11-11 criteria provided, single submitter clinical testing The p.Lys78Glu variant in LMNA has been reported in 1 adult with non-sustained l eft ventricular tachycardia (NSVT) and segregated with disease in his affected s ister (DCM, sustained VT) (Kourgiannidis 2013). It was absent from large populat ion studies. Computational prediction tools and conservation analysis suggest th at this variant may impact the protein, though this information is not predictiv e enough to determine pathogenicity. In summary, the clinical significance of th e p.Lys78Glu variant is uncertain.

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