ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1142del (p.Glu381fs)

dbSNP: rs1553265760
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653874 SCV000775764 pathogenic Charcot-Marie-Tooth disease type 2 2022-03-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 543194). This premature translational stop signal has been observed in individual(s) with cardiac conduction system disease (PMID: 20627339, 22071332). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu381Glyfs*99) 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). For these reasons, this variant has been classified as Pathogenic.

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