ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1380+2T>G

dbSNP: rs1553265924
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653953 SCV000775843 pathogenic Charcot-Marie-Tooth disease type 2 2022-10-28 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 of the LMNA gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in LMNA are known to be pathogenic (PMID: 18585512, 18926329). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 543244). Disruption of this splice site has been observed in individuals with laminopathies (PMID: 18035086, 22326558). This variant is not present in population databases (gnomAD no frequency).

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