Total submissions: 3
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, |
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, |
RCV000057223 | SCV000088336 | not provided | not provided | no assertion provided | not provided |