Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000596201 | SCV000705746 | uncertain significance | not provided | 2017-01-18 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000671914 | SCV000796948 | uncertain significance | Smith-Lemli-Opitz syndrome | 2018-01-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000671914 | SCV001203652 | pathogenic | Smith-Lemli-Opitz syndrome | 2024-01-24 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 224 of the DHCR7 protein (p.Glu224Lys). This variant is present in population databases (rs373121544, gnomAD 0.004%). This missense change has been observed in individual(s) with Smith-Lemli-Opitz syndrome (PMID: 15776424). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 499993). 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. |
Natera, |
RCV000671914 | SCV002093033 | uncertain significance | Smith-Lemli-Opitz syndrome | 2020-02-25 | no assertion criteria provided | clinical testing |