Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003581587 | SCV004292907 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2023-01-22 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Studies have shown that this variant results in the activation of a cryptic splice site in intron 2 (PMID: 27717888). ClinVar contains an entry for this variant (Variation ID: 236201). This variant has been observed in individuals with autosomal dominant LMNA-related conditions (PMID: 26573435, 27717888). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 2 of the LMNA gene. It does not directly change the encoded amino acid sequence of the LMNA protein. RNA analysis indicates that this variant induces altered splicing and likely results in the gain of 15 amino acid residue(s), but is expected to preserve the integrity of the reading-frame. |
Petrovsky National Research Centre of Surgery, |
RCV000225043 | SCV000268124 | pathogenic | Benign scapuloperoneal muscular dystrophy with cardiomyopathy | 2016-04-26 | no assertion criteria provided | clinical testing | The diagnosis of EDMD for the patient was established based on neuromuscular and cardiac symptoms. This variant segregates in the family, and it was not detected in DNA samples of healthy individuals. Sequencing of the target cDNA fragment revealed the insertion between 2 and 3 exons. |