Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172504 | SCV000051358 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Illumina Laboratory Services, |
RCV001089302 | SCV000364929 | uncertain significance | Dilated cardiomyopathy 1W | 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 |
RCV001089302 | SCV000645844 | likely benign | Dilated cardiomyopathy 1W | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000172504 | SCV001759569 | uncertain significance | not provided | 2020-10-02 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar, but additional evidence is not available (ClinVar Variant ID# 192105; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Ambry Genetics | RCV004678624 | SCV005179529 | uncertain significance | Cardiovascular phenotype | 2024-05-20 | criteria provided, single submitter | clinical testing | The p.P536H variant (also known as c.1607C>A), located in coding exon 12 of the VCL gene, results from a C to A substitution at nucleotide position 1607. The proline at codon 536 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |