ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1606del (p.Glu536fs)

dbSNP: rs1651736894
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044702 SCV001208513 pathogenic Charcot-Marie-Tooth disease type 2 2023-01-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 842305). This variant has not been reported in the literature in individuals affected with LMNA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu536Lysfs*12) 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).
GeneDx RCV002466612 SCV002762174 likely pathogenic not provided 2022-06-06 criteria provided, single submitter clinical testing Identified in a patient with muscle wasting and cardiac involvement who also harbored a variant in another EDMD-related gene (Meinke et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31862442)

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