ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1063C>T (p.Gln355Ter)

dbSNP: rs267607617
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233611 SCV000291543 pathogenic Charcot-Marie-Tooth disease type 2 2016-06-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Truncating variants in LMNA are known to be pathogenic (PMID: 23183350). This particular truncation has been reported in the literature in individuals affected with LMNA-related disorders and it has been shown to segregate in two families (PMID: 15539782, 18646565, 15866440). This sequence change creates a premature translational stop signal at codon 355 (p.Gln355*). It is expected to result in an absent or disrupted protein product.
Human Genetics Bochum, Ruhr University Bochum RCV003886373 SCV004704532 pathogenic Dilated cardiomyopathy 1A 2023-10-10 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PVS1, PM1, PM2_SUP
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057223 SCV000088336 not provided not provided no assertion provided not provided

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