Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV002309461 | SCV002603839 | likely pathogenic | Cholestanol storage disease | 2022-04-01 | criteria provided, single submitter | clinical testing | NM_000784.3(CYP27A1):c.426_430del5(T143Wfs*36) is expected to be pathogenic in the context of cerebrotendinous xanthomatosis. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in CYP27A1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening. |