ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.784G>T (p.Glu262Ter)

dbSNP: rs397517909
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041366 SCV000065059 likely pathogenic Primary dilated cardiomyopathy 2012-09-26 criteria provided, single submitter clinical testing The Glu262X variant in LMNA has not been reported in the literature nor previous ly identified by our laboratory. This variant has not been identified in large a nd broad European American and African American populations by NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS). This nonsense variant leads to a premature termination codon at position 262, which is predicted to lead to a truncated or absent protein. Variants in LMNA have been identified in a range of disorders including dilated cardiomyopathy with or without conduction system di sease and/or skeletal myopathy and other variants resulting in a loss of functio n of the LMNA gene are established pathogenic variants. In summary, this variant is likely to be pathogenic, but additional studies are needed to fully establis h its clinical significance.
Invitae RCV003581570 SCV004308413 pathogenic Charcot-Marie-Tooth disease type 2 2023-07-19 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: 48081). 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.Glu262*) 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).

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