ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.339dup (p.Lys114Ter) (rs794728604)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182385 SCV000234722 likely pathogenic not provided 2017-04-04 criteria provided, single submitter clinical testing The K114X variant in the LMNA gene has not been reported as a pathogenic variant or as a benign polymorphism to our knowledge. K114X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the LMNA gene have been reported in HGMD in association with cardiomyopathy (Stenson P et al., 2009). In summary, K114X in the LMNA gene is interpreted as a likely pathogenic variant.

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