ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.991_992del (p.Arg331fs)

dbSNP: rs1553265647
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653920 SCV000775810 pathogenic Charcot-Marie-Tooth disease type 2 2017-11-30 criteria provided, single submitter clinical testing Loss-of-function variants in LMNA are known to be pathogenic (PMID: 18585512, 18926329). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with LMNA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg331Glyfs*94) in the LMNA gene. It is expected to result in an absent or disrupted protein product.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170980 SCV001333640 likely pathogenic Cardiomyopathy 2017-11-28 criteria provided, single submitter clinical testing

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