Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000513933 | SCV000609803 | uncertain significance | not provided | 2017-05-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000717470 | SCV000848322 | uncertain significance | History of neurodevelopmental disorder | 2018-01-24 | criteria provided, single submitter | clinical testing | Insufficient evidence |
EGL Genetic Diagnostics, |
RCV000513933 | SCV000861907 | uncertain significance | not provided | 2018-06-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763769 | SCV000894665 | uncertain significance | Smith-Lemli-Opitz syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000763769 | SCV000947860 | uncertain significance | Smith-Lemli-Opitz syndrome | 2019-01-30 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine with serine at codon 240 of the DHCR7 protein (p.Asn240Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs148609143, ExAC 0.03%). This variant has not been reported in the literature in individuals with DHCR7-related conditions. ClinVar contains an entry for this variant (Variation ID: 445437). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |