Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001036248 | SCV001199600 | pathogenic | Charcot-Marie-Tooth disease type 2 | 2023-06-16 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with dilated cardiomyopathy (PMID: 18585512). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 66777). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu372Argfs*108) 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). |
Epithelial Biology; Institute of Medical Biology, |
RCV000057234 | SCV000088347 | not provided | not provided | no assertion provided | not provided |