Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001890723 | SCV002151115 | pathogenic | Smith-Lemli-Opitz syndrome | 2021-05-02 | criteria provided, single submitter | clinical testing | This sequence change results in a frameshift in the DHCR7 gene (p.Tyr324Leufs*232). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 152 amino acid(s) of the DHCR7 protein and extend the protein by 79 additional amino acid residues. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the DHCR7 protein. Other variant(s) that disrupt this region (p.Lys376Argfs*37) have been determined to be pathogenic (PMID: 18006960, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with DHCR7-related conditions. This variant is not present in population databases (ExAC no frequency). |