ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter)

dbSNP: rs57730570
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000624376 SCV000740351 pathogenic Primary familial dilated cardiomyopathy 2017-02-27 criteria provided, single submitter clinical testing
Invitae RCV001070590 SCV001235849 pathogenic Charcot-Marie-Tooth disease type 2 2019-12-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LMNA are known to be pathogenic (PMID: 18585512, 18926329). This variant has been observed in a family affected with atrial fibrillation (PMID: 27373676). ClinVar contains an entry for this variant (Variation ID: 520447). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp498*) in the LMNA gene. It is expected to result in an absent or disrupted protein product.

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