Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001216884 | SCV001388702 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2P | 2019-05-07 | criteria provided, single submitter | clinical testing | 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. Disruption of the donor splice site of exon 24 has been observed in a family affected with Charcot-Marie-Tooth disease (PMID: 24894446). This variant is a deletion of the genomic region encompassing part of exon 24 (c.2029_2046+7del) 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. |