Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000034318 | SCV000813858 | uncertain significance | Charcot-Marie-Tooth disease type 2P | 2018-02-08 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in the last intron (intron 24) of the LRSAM1 gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with Charcot-Marie-Tooth disease, type 2 in a large family (PMID: 22781092, 28286897). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this splice acceptor change results in a truncated protein (PMID: 22781092). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| OMIM | RCV000034318 | SCV000058269 | pathogenic | Charcot-Marie-Tooth disease type 2P | 2013-02-01 | no assertion criteria provided | literature only | |
| Inherited Neuropathy Consortium | RCV000789359 | SCV000928714 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |