Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000877688 | SCV001020464 | likely benign | Cohen syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000877688 | SCV001324223 | uncertain significance | Cohen syndrome | 2018-01-13 | 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. |
| Ambry Genetics | RCV002390848 | SCV002702342 | uncertain significance | Inborn genetic diseases | 2018-07-20 | criteria provided, single submitter | clinical testing | The p.V3445M variant (also known as c.10333G>A), located in coding exon 55 of the VPS13B gene, results from a G to A substitution at nucleotide position 10333. The valine at codon 3445 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. 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. |
| Prevention |
RCV003955761 | SCV004768163 | likely benign | VPS13B-related disorder | 2022-04-22 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
| Natera, |
RCV000877688 | SCV002082740 | likely benign | Cohen syndrome | 2020-04-15 | no assertion criteria provided | clinical testing |