ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1609-3C>G (rs267607581)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154514 SCV000204185 likely pathogenic Primary dilated cardiomyopathy; Neuromuscular disease 2018-09-06 criteria provided, single submitter clinical testing The c.1609-3C>G variant in LMNA has been identified in one individual with limb girdle muscular dystrophy and was found to segregate with disease in 3 affected relatives (Chrestian 2008), all of whom had cardiac involvement. It was also ide ntified by laboratory in one individual with DCM. It was absent from large popul ation studies, but has been reported in ClinVar (Variation ID 66856). This varia nt was shown to result in skipping of exon 10 and an in-frame deletion of 30 ami no acids (Chrestian 2008, Ito 2017). In summary, although additional studies are required to fully establish its clinical significance, the c.1609-3C>G variant is likely pathogenic. ACMG/AMP Criteria applied: PM2, PS3_Moderate, PS4_Supporti ng, PP1.
Genetic Services Laboratory,University of Chicago RCV000503283 SCV000595635 pathogenic Dilated cardiomyopathy 1A 2013-02-08 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000623500 SCV000740350 pathogenic Primary familial hypertrophic cardiomyopathy 2017-01-25 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174242 SCV001337371 likely pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057338 SCV000088451 not provided not provided no assertion provided not provided

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