ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.283_284delinsTG (p.Val95Ter)

dbSNP: rs2102818749
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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 RCV001894365 SCV002124220 pathogenic Charcot-Marie-Tooth disease type 2 2021-08-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val95*) 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 has not been reported in the literature in individuals affected with LMNA-related conditions. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. For these reasons, this variant has been classified as Pathogenic.

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