Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000688289 | SCV000815894 | pathogenic | Charcot-Marie-Tooth disease type 2 | 2018-11-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu2*) in the LMNA gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LMNA are known to be pathogenic (PMID: 18585512, 18926329). This variant has not been reported in the literature in individuals with LMNA-related disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. |
| Ambry Genetics | RCV002343440 | SCV002645449 | pathogenic | Cardiovascular phenotype | 2018-04-05 | criteria provided, single submitter | clinical testing | The p.E2* pathogenic mutation (also known as c.4G>T), located in coding exon 1 of the LMNA gene, results from a G to T substitution at nucleotide position 4. This changes the amino acid from a glutamic acid to a stop codon within coding exon 1. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |