Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001179519 | SCV001344189 | uncertain significance | Cardiomyopathy | 2023-07-27 | criteria provided, single submitter | clinical testing | This variant inserts 4 nucleotides in exon 11 of the LMNA gene. This variant represents c.1747_1750dup (p.Arg584Leufs\*121) in the lamin A transcript (NM_170707.2) and is expected to extend the length of the lamin A protein due to the addition of 60 novel amino acids after the site of frameshift. This variant corresponds to c.\*772_*775dup in the lamin C transcript (NM_005572.3). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with LMNA-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |