ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1304_1307dup (p.Ser437fs)

dbSNP: rs267607577
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390100 SCV001591721 pathogenic Charcot-Marie-Tooth disease type 2 2023-05-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this premature translational stop signal affects LMNA function (PMID: 20160190). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 66803). This variant is also known as c.1307_1308insGCAC, p.Ser437HisfsX1. This premature translational stop signal has been observed in individual(s) with autosomal dominant dilated cardiomyopathy (PMID: 30012837). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser437Hisfs*2) 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).
Clinical Genetics Laboratory, Skane University Hospital Lund RCV000057266 SCV005199062 pathogenic not provided 2022-11-15 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057266 SCV000088379 not provided not provided no assertion provided not provided
Blueprint Genetics RCV000157296 SCV000207028 pathogenic Cardiomyopathy 2014-10-27 no assertion criteria provided clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001257938 SCV001434748 uncertain significance Primary dilated cardiomyopathy no assertion criteria provided research

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