Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000792295 | SCV000931582 | pathogenic | Charcot-Marie-Tooth disease axonal type 2P | 2022-12-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln653Profs*5) in the LRSAM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LRSAM1 are known to be pathogenic (PMID: 20865121, 33414056). This variant is present in population databases (rs775965001, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 639489). This variant has not been reported in the literature in individuals affected with LRSAM1-related conditions. |