Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000998684 | SCV001154876 | likely pathogenic | not provided | 2018-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001869408 | SCV002199385 | pathogenic | LAMA2-related muscular dystrophy | 2022-02-08 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs747567057, gnomAD 0.002%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 809994). This variant has not been reported in the literature in individuals affected with LAMA2-related conditions. This sequence change creates a premature translational stop signal (p.Asn1732Lysfs*10) in the LAMA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894, 32904964). |