Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729197 | SCV000856839 | uncertain significance | not provided | 2017-09-07 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001862168 | SCV002163844 | uncertain significance | Cholestanol storage disease | 2022-10-24 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 323 of the CYP27A1 protein (p.Arg323Trp). This variant is present in population databases (rs371603253, gnomAD 0.02%). 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: 594005). 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 not expected to disrupt 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. |
Ambry Genetics | RCV004026966 | SCV003695465 | uncertain significance | Cardiovascular phenotype | 2022-10-04 | criteria provided, single submitter | clinical testing | The c.967C>T (p.R323W) alteration is located in exon 5 (coding exon 5) of the CYP27A1 gene. This alteration results from a C to T substitution at nucleotide position 967, causing the arginine (R) at amino acid position 323 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003411670 | SCV004116200 | uncertain significance | CYP27A1-related disorder | 2023-03-14 | criteria provided, single submitter | clinical testing | The CYP27A1 c.967C>T variant is predicted to result in the amino acid substitution p.Arg323Trp. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Breakthrough Genomics, |
RCV000729197 | SCV005188285 | uncertain significance | not provided | criteria provided, single submitter | not provided |