Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193835 | SCV000249395 | uncertain significance | not specified | 2014-12-17 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001060335 | SCV001225015 | uncertain significance | Cohen syndrome | 2022-02-08 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 3580 of the VPS13B protein (p.Val3580Met). This variant is present in population databases (rs745866775, gnomAD 0.03%). 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: 212569). 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: "Possibly Damaging"; 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 | RCV003372646 | SCV004061950 | uncertain significance | Inborn genetic diseases | 2023-06-26 | criteria provided, single submitter | clinical testing | The c.10738G>A (p.V3580M) alteration is located in exon 56 (coding exon 55) of the VPS13B gene. This alteration results from a G to A substitution at nucleotide position 10738, causing the valine (V) at amino acid position 3580 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001060335 | SCV002082753 | uncertain significance | Cohen syndrome | 2019-11-11 | no assertion criteria provided | clinical testing | |
Prevention |
RCV004742325 | SCV005348222 | uncertain significance | VPS13B-related disorder | 2024-05-07 | no assertion criteria provided | clinical testing | The VPS13B c.10663G>A variant is predicted to result in the amino acid substitution p.Val3555Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |