Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000700660 | SCV000829425 | pathogenic | Charcot-Marie-Tooth disease type 2P | 2018-05-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu565Argfs*36) in the LRSAM1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs749012928, ExAC 0.002%). This variant has not been reported in the literature in individuals with LRSAM1-related disease. Loss-of-function variants in LRSAM1 are known to be pathogenic (PMID: 20865121). For these reasons, this variant has been classified as Pathogenic. |