ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.364_366AAG[1] (p.Lys123del) (rs794728597)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182374 SCV000234707 likely pathogenic not provided 2018-03-20 criteria provided, single submitter clinical testing The c.367_369delAAG likely pathogenic variant in the LMNA gene has been reported previously in association with cardiomyopathy and laminopathy (Keller et al., 2012; Kajino et al., 2014). Keller et al. reported c.367_369delAAG in a 43-year-old woman with severe arrhythmia and a three generation family history of sudden death, cardiomyopathy, and arrhythmia. This variant was inherited from her affected father and was shown to segregate with disease in an affected sibling (Keller et al., 2012). The c.367_369delAAG variant has also been shown to segregate with disease in one relative tested at GeneDx. Kajino et al. reported an additional individual with the c.367_369delAAG variant who was initially diagnosed with childhood fiber type dysplasia (CTFD). The c.367_369delAAG variant has also been reported as a likely pathogenic variant by an outside laboratory in ClinVar (SCV000264016.1; Landrum et al., 2016). The c.367_369delAAG variant results in an in-frame deletion of a Lysine at position 123 of the LMNA gene and is located in the alpha-helical rod domain. Lastly, this variant is not observed in large population cohorts (Lek et al., 2016).
Blueprint Genetics RCV000208440 SCV000264016 likely pathogenic Primary dilated cardiomyopathy 2015-08-04 criteria provided, single submitter clinical testing

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