Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000633713 | SCV000754985 | uncertain significance | Cholestanol storage disease | 2022-10-21 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 72 of the CYP27A1 protein (p.Leu72Gln). This variant is present in population databases (rs138189735, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 528492). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CYP27A1 protein function. 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. |
Gene |
RCV001579919 | SCV002050638 | uncertain significance | not provided | 2023-10-30 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Athena Diagnostics | RCV001579919 | SCV002770470 | uncertain significance | not provided | 2021-10-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003420097 | SCV004113365 | uncertain significance | CYP27A1-related disorder | 2022-12-28 | criteria provided, single submitter | clinical testing | The CYP27A1 c.215T>A variant is predicted to result in the amino acid substitution p.Leu72Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.026% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-219647120-T-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Natera, |
RCV000633713 | SCV001462709 | uncertain significance | Cholestanol storage disease | 2019-11-11 | no assertion criteria provided | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001579919 | SCV001809028 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV001579919 | SCV001924208 | uncertain significance | not provided | no assertion criteria provided | clinical testing |