Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003067447 | SCV003457277 | uncertain significance | Cohen syndrome | 2022-02-04 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 3679 of the VPS13B protein (p.Tyr3679Cys). This variant is present in population databases (rs774678400, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 | RCV003067448 | SCV003618492 | uncertain significance | Inborn genetic diseases | 2022-04-22 | criteria provided, single submitter | clinical testing | The c.11036A>G (p.Y3679C) alteration is located in exon 57 (coding exon 56) of the VPS13B gene. This alteration results from a A to G substitution at nucleotide position 11036, causing the tyrosine (Y) at amino acid position 3679 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |