ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1146_1153del (p.Glu384fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005135822 SCV005762412 pathogenic Charcot-Marie-Tooth disease type 2 2024-08-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu384Alafs*39) in the LMNA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LMNA are known to be pathogenic (PMID: 18585512, 18926329). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LMNA-related conditions. For these reasons, this variant has been classified as Pathogenic.

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