ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1436del (p.Leu479fs) (rs1553266024)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525920 SCV000657801 pathogenic Charcot-Marie-Tooth disease, type 2 2018-09-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu479Argfs*11) in the LMNA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LMNA-related disease. Loss-of-function variants in LMNA are known to be pathogenic (PMID: 18585512, 18926329). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000599572 SCV000710719 likely pathogenic not provided 2018-02-28 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the LMNA gene. The c.1436delT variant hasnot been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1436delT variant causes a frameshift starting with codon Leucine 479, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Leu479ArgfsX11. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1436delT variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is likelypathogenic; however, the possibility that it is benign cannot be excluded.

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