Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000578237 | SCV000680188 | pathogenic | Smith-Lemli-Opitz syndrome | 2017-11-08 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000724648 | SCV000700795 | likely pathogenic | not provided | 2016-10-21 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000578237 | SCV001163334 | pathogenic | Smith-Lemli-Opitz syndrome | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000578237 | SCV001232299 | pathogenic | Smith-Lemli-Opitz syndrome | 2019-12-09 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with proline at codon 157 of the DHCR7 protein (p.Leu157Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs753960624, ExAC 0.01%). This variant has been observed in individual(s) with Smith Lemli Opitz syndrome (PMID: 9653161, 15521979, 15805162, 20556518). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 488492). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). For these reasons, this variant has been classified as Pathogenic. |
Counsyl | RCV000578237 | SCV000793712 | likely pathogenic | Smith-Lemli-Opitz syndrome | 2017-08-29 | no assertion criteria provided | clinical testing |