Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001364151 | SCV001560285 | uncertain significance | Smith-Lemli-Opitz syndrome | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 162 of the DHCR7 protein (p.Ala162Thr). This variant is present in population databases (rs767716202, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DHCR7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1055477). 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. |
Prevention |
RCV003898348 | SCV004713220 | uncertain significance | DHCR7-related condition | 2023-11-07 | criteria provided, single submitter | clinical testing | The DHCR7 c.484G>A variant is predicted to result in the amino acid substitution p.Ala162Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-71152415-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Natera, |
RCV001364151 | SCV002093045 | uncertain significance | Smith-Lemli-Opitz syndrome | 2019-09-27 | no assertion criteria provided | clinical testing |