Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001854178 | SCV002153336 | pathogenic | Charcot-Marie-Tooth disease type 2 | 2024-01-08 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 5 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 may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with autosomal dominant limb-girdle muscular dystrophy (PMID: 21462202). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 66957). Studies have shown that this variant results in altered splicing and introduces a premature termination codon (PMID: 21462202). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. |
Epithelial Biology; Institute of Medical Biology, |
RCV000057486 | SCV000088600 | not provided | not provided | no assertion provided | not provided |