Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079645 | SCV000111528 | uncertain significance | not provided | 2013-04-01 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000411557 | SCV000487064 | likely pathogenic | Smith-Lemli-Opitz syndrome | 2016-10-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000411557 | SCV002237904 | pathogenic | Smith-Lemli-Opitz syndrome | 2024-01-06 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 462 of the DHCR7 protein (p.Tyr462His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Smith-Lemli-Opitz syndrome (PMID: 10814720, 27513191). ClinVar contains an entry for this variant (Variation ID: 93711). 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. |
Gene |
RCV000079645 | SCV004023571 | likely pathogenic | not provided | 2023-02-07 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25405082, 22391996, 24500076, 28349652, 24813812, 27401223, 11001806, 16983147, 10814720, 11241839, 15670717, 11111101, 12914579, 23042628, 16207203) |