Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031881 | SCV001195188 | likely pathogenic | LAMA2-related muscular dystrophy | 2019-11-27 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exons 32-33 of the LAMA2 gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with LAMA2-related conditions. Loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |