Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000373213 | SCV000341881 | uncertain significance | not provided | 2016-05-03 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000397675 | SCV000427465 | uncertain significance | Cholestanol storage disease | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Labcorp Genetics |
RCV000397675 | SCV001691151 | likely benign | Cholestanol storage disease | 2025-01-11 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002348013 | SCV002645125 | uncertain significance | Cardiovascular phenotype | 2024-01-23 | criteria provided, single submitter | clinical testing | The p.N179S variant (also known as c.536A>G), located in coding exon 3 of the CYP27A1 gene, results from an A to G substitution at nucleotide position 536. The asparagine at codon 179 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Gene |
RCV000373213 | SCV005332831 | uncertain significance | not provided | 2024-03-15 | 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 |