Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001309960 | SCV001499476 | uncertain significance | Cohen syndrome | 2022-03-31 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 171 of the VPS13B protein (p.Val171Ile). This variant is present in population databases (rs529286193, gnomAD 0.02%). 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: 1012065). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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 | RCV002350564 | SCV002646513 | uncertain significance | Inborn genetic diseases | 2017-06-14 | criteria provided, single submitter | clinical testing | The p.V171I variant (also known as c.511G>A), located in coding exon 4 of the VPS13B gene, results from a G to A substitution at nucleotide position 511. The valine at codon 171 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001309960 | SCV002079435 | uncertain significance | Cohen syndrome | 2020-02-10 | no assertion criteria provided | clinical testing | |
Prevention |
RCV004743395 | SCV005366463 | uncertain significance | VPS13B-related disorder | 2024-08-19 | no assertion criteria provided | clinical testing | The VPS13B c.511G>A variant is predicted to result in the amino acid substitution p.Val171Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |