Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics, |
RCV001200924 | SCV001190310 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2019-02-15 | criteria provided, single submitter | case-control | The variant in LMNA may be associated with cardiovascular pathology (bradycardia and syncopal episodes). |
Invitae | RCV003117843 | SCV003786345 | pathogenic | Charcot-Marie-Tooth disease type 2 | 2022-05-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln184*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of LMNA-related conditions (PMID: 31263448). ClinVar contains an entry for this variant (Variation ID: 932950). For these reasons, this variant has been classified as Pathogenic. |