Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Genetic Services Laboratory, |
RCV000503724 | SCV000597918 | pathogenic | Cohen syndrome | 2016-01-20 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000503724 | SCV002182294 | pathogenic | Cohen syndrome | 2024-12-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe2028Leufs*2) in the VPS13B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in VPS13B are known to be pathogenic (PMID: 15141358, 16648375, 20461111). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 437257). For these reasons, this variant has been classified as Pathogenic. |
| Gene |
RCV004591446 | SCV005081262 | likely pathogenic | not provided | 2024-04-03 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000503724 | SCV005422209 | pathogenic | Cohen syndrome | 2024-10-23 | criteria provided, single submitter | clinical testing | Variant summary: VPS13B c.6084delT (p.Phe2028LeufsX2) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant allele was found at a frequency of 4e-06 in 250804 control chromosomes. To our knowledge, no occurrence of c.6084delT in individuals affected with Cohen Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 437257). Based on the evidence outlined above, the variant was classified as pathogenic. |
| Fulgent Genetics, |
RCV000503724 | SCV005667378 | pathogenic | Cohen syndrome | 2024-05-14 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000503724 | SCV000789554 | likely pathogenic | Cohen syndrome | 2017-02-07 | no assertion criteria provided | clinical testing |