ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.475G>T (p.Glu159Ter) (rs267607622)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Medicine,National Cerebral Cardiovascular Center RCV000984808 SCV000996024 pathogenic Dilated cardiomyopathy 1A 2019-06-24 criteria provided, single submitter clinical testing A proband (female) who suffered from atrial fibrillation and bradycardia, was implanted with a pacemaker in her fifties. Twenty years later, she experienced a loss of consciousness due to polymorphic ventricular tachycardia. The proband had a serious family history; her mother and elder sister died suddenly in their fifties and sixties, respectively, and her nephew and son were diagnosed as having dilated cardiomyopathy. Genetic screening of the proband, her son, and nephew identified a nonsense mutation (c.475G>T, p.E159*) in the LMNA gene.
Invitae RCV001068018 SCV001233105 pathogenic Charcot-Marie-Tooth disease, type 2 2019-01-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu159*) in the LMNA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LMNA-related conditions. Loss-of-function variants in LMNA are known to be pathogenic (PMID: 18585512, 18926329). For these reasons, this variant has been classified as Pathogenic.

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