ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter) (rs56699480)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000057304 SCV000680667 pathogenic not provided 2018-01-22 criteria provided, single submitter clinical testing The Q493X variant in the LMNA gene has been reported in a German individual with adult onset proximal spinal muscular atrophy (SMA) and subsequent cardiac involvement who had a family history of similar features which was consistent with autosomal dominant inheritance (Rudnik-Schöneborn et al., 2007). The Q493X pathogenic variant 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 Human Gene Mutation Database in association with LMNA-related disorders (Stenson et al., 2014). Furthermore, the Q493X variant is not observed in large population cohorts (Lek et al., 2016).
OMIM RCV000015609 SCV000035874 pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant 2007-04-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057304 SCV000088417 not provided not provided no assertion provided not provided

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