Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000274996 | SCV000329332 | pathogenic | not provided | 2016-09-22 | criteria provided, single submitter | clinical testing | The H119L missense pathogenic variant has been reported previously in association with SLOS (Witsch-Baumgartner et al., 2001). |
Invitae | RCV000007182 | SCV002247477 | pathogenic | Smith-Lemli-Opitz syndrome | 2022-09-02 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs28938174, gnomAD 0.0009%). This sequence change replaces histidine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 119 of the DHCR7 protein (p.His119Leu). This missense change has been observed in individual(s) with Smith-Lemli-Opitz syndrome (PMID: 9683613). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DHCR7 protein function. ClinVar contains an entry for this variant (Variation ID: 6780). |
Fulgent Genetics, |
RCV000007182 | SCV002802353 | likely pathogenic | Smith-Lemli-Opitz syndrome | 2022-01-11 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000007182 | SCV000027378 | pathogenic | Smith-Lemli-Opitz syndrome | 1998-08-01 | no assertion criteria provided | literature only |