Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231111 | SCV000291319 | pathogenic | Charcot-Marie-Tooth disease type 2P | 2019-10-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal at codon 427 (p.Arg427*) of the LRSAM1 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss of function variants in LRSAM1 are known to cause autosomal recessive Charcot-Marie-Tooth disease (PMID: 20865121). ClinVar contains an entry for this variant (Variation ID: 241836). For these reasons, this variant has been classified as Pathogenic. |