ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1264G>T (p.Glu422Ter)

dbSNP: rs1448275854
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823653 SCV000964520 pathogenic Charcot-Marie-Tooth disease type 2 2018-12-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LMNA are known to be pathogenic (PMID: 18585512, 18926329). This variant has not been reported in the literature in individuals with LMNA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu422*) in the LMNA gene. It is expected to result in an absent or disrupted protein product.

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